A total 1076 pathogenic variants reported in gene BRCA1 associated RING domain 1 (BARD1)  
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000465.4(BARD1):c.1028C>T (p.Thr343Ile) SNV
Germline
Chr2:214780846 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified
BARD1-related disorder
Criteria Provided
Conflicting Classifications
CA331810 rs_201032007

16 SubmittersRCV000115608RCV000206115RCV000235113RCV003320563RCV003891610

NM_000465.4(BARD1):c.1217G>A (p.Arg406Gln) SNV
Germline
Chr2:214780657 Conflicting classifications of pathogenicity Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Carcinoma of colon
BARD1-related cancer predisposition
Criteria Provided
Conflicting Classifications
CA287510 rs_587780014

9 SubmittersRCV000115609RCV000226218RCV000222471RCV000855729RCV005600668

NM_000465.4(BARD1):c.1568T>C (p.Val523Ala) SNV
Germline
Chr2:214767482 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Familial cancer of breast
BARD1-related cancer predisposition
Criteria Provided
Conflicting Classifications
CA331812 rs_587780017

11 SubmittersRCV000115612RCV000589446RCV000722111RCV001079586RCV005359080

NM_000465.4(BARD1):c.1569-13C>G SNV
Germline
Chr2:214752568 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
Criteria Provided
Conflicting Classifications
CA287516 rs_587780018

8 SubmittersRCV000115613RCV000580058RCV000708905RCV003320564

NM_000465.4(BARD1):c.1677+5G>A SNV
Germline
Chr2:214752442 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
BARD1-related cancer predisposition
Malignant tumor of breast
Criteria Provided
Conflicting Classifications
CA287517 rs_587780019

9 SubmittersRCV000115614RCV000215087RCV000635683RCV002271408RCV005600669RCV005237548

NM_000465.4(BARD1):c.1690C>T (p.Gln564Ter) SNV
Germline
Chr2:214745842 Pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Hereditary breast ovarian cancer syndrome
Triple-Negative Breast Cancer Finding
Breast and/or ovarian cancer
Endometrial carcinoma
BARD1-related disorder
BARD1-related cancer predisposition
Criteria Provided
Multiple Submitters
No Conflicts
CA287518 rs_587780021

30 SubmittersRCV000115616RCV000205536RCV000212135RCV000588742RCV000678225RCV001270956RCV003128144RCV003415888RCV005359081

NM_000465.4(BARD1):c.1694G>A (p.Arg565His) SNV
Germline
Chr2:214745838 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
Condition: not provided
Malignant tumor of breast
BARD1-related disorder
Criteria Provided
Conflicting Classifications
CA287520 rs_146946984

19 SubmittersRCV000115617RCV000197934RCV000212137RCV000589818RCV001355455RCV003952549

NM_000465.4(BARD1):c.1718T>C (p.Ile573Thr) SNV
Germline
Chr2:214745814 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified
BARD1-related cancer predisposition
Criteria Provided
Conflicting Classifications
CA287522 rs_587780022

12 SubmittersRCV000115618RCV000227623RCV000586551RCV001420717RCV005359082

NM_000465.4(BARD1):c.1793C>A (p.Thr598Asn) SNV
Germline
Chr2:214745739 Conflicting classifications of pathogenicity Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified
Breast and/or ovarian cancer
Criteria Provided
Conflicting Classifications
CA331816 rs_376256852

13 SubmittersRCV000115619RCV000206143RCV000566888RCV001526924RCV003492476

NM_000465.4(BARD1):c.1977A>G (p.Arg659=) SNV
Germline
Chr2:214730435 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
Condition: not provided
Malignant tumor of breast
Breast and/or ovarian cancer
BARD1-related disorder
Criteria Provided
Conflicting Classifications
CA287528 rs_147215925

28 SubmittersRCV000115623RCV000200663RCV000417370RCV000586474RCV001357201RCV003492477RCV003891611

NM_000465.4(BARD1):c.2002-12T>G SNV
Germline
Chr2:214729020 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Hereditary cancer
Criteria Provided
Conflicting Classifications
CA287532 rs_587780027

5 SubmittersRCV000115625RCV000771218RCV002055274RCV005229907

NM_000465.4(BARD1):c.2116A>G (p.Lys706Glu) SNV
Germline
Chr2:214728894 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Malignant tumor of breast
Familial adenomatous polyposis 2
BARD1-related cancer predisposition
not specified
Criteria Provided
Conflicting Classifications
CA331819 rs_149262370

13 SubmittersRCV000115626RCV000204656RCV000590177RCV001355765RCV003153369RCV005600671RCV005055583

NM_000465.4(BARD1):c.2191C>G (p.Arg731Gly) SNV
Germline
Chr2:214728819 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Malignant tumor of breast
not specified
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
Hereditary cancer
Criteria Provided
Conflicting Classifications
CA287535 rs_76744638

19 SubmittersRCV000115628RCV000197435RCV000679341RCV001354852RCV001818273RCV002225328RCV003492478RCV003492479

NM_000465.4(BARD1):c.2282G>A (p.Ser761Asn) SNV
Germline
Chr2:214728728 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
Hereditary cancer
Condition: not provided
Malignant tumor of breast
Breast and/or ovarian cancer
Criteria Provided
Conflicting Classifications
CA287539 rs_142155101

22 SubmittersRCV000115631RCV000197696RCV000212144RCV000415317RCV000588281RCV001357958RCV003492480

NM_000465.4(BARD1):c.2291T>C (p.Ile764Thr) SNV
Germline
Chr2:214728719 Conflicting classifications of pathogenicity Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified
BARD1-related disorder
Hereditary breast ovarian cancer syndrome
Criteria Provided
Conflicting Classifications
CA287541 rs_587780030

12 SubmittersRCV000115632RCV000466685RCV000568015RCV001532967RCV003415889RCV004760377

NM_000465.4(BARD1):c.33G>T (p.Gln11His) SNV
Germline
Chr2:214809537 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
Condition: not provided
Malignant tumor of breast
Breast and/or ovarian cancer
Criteria Provided
Conflicting Classifications
CA287543 rs_143914387

25 SubmittersRCV000115633RCV000195673RCV000417369RCV000587822RCV001281075RCV003492481

NM_000465.4(BARD1):c.353A>G (p.Asn118Ser) SNV
Germline
Chr2:214792308 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Familial cancer of breast
Condition: not provided
Malignant tumor of breast
Clear cell carcinoma of kidney
Criteria Provided
Conflicting Classifications
CA287545 rs_142864491

13 SubmittersRCV000115634RCV000212113RCV000468892RCV000656769RCV001358028RCV005887909

NM_000465.4(BARD1):c.3G>A (p.Met1Ile) SNV
Germline
Chr2:214809567 Conflicting classifications of pathogenicity Condition: not provided
Malignant tumor of breast
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA287547 rs_587780031

4 SubmittersRCV000115635RCV001356012RCV001216890RCV002371945

NM_000465.4(BARD1):c.54C>G (p.Asn18Lys) SNV
Germline
Chr2:214809516 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified
BARD1-related disorder
Ovarian cancer
Criteria Provided
Conflicting Classifications
CA287549 rs_587780032

13 SubmittersRCV000115636RCV000535960RCV000766538RCV001731379RCV003935101RCV003153370

NM_000465.4(BARD1):c.668A>G (p.Glu223Gly) SNV
Germline
Chr2:214781206 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified
Malignant tumor of breast
Breast and/or ovarian cancer
BARD1-related disorder
BARD1-related cancer predisposition
Criteria Provided
Conflicting Classifications
CA287552 rs_145009419

21 SubmittersRCV000115639RCV000198939RCV000587223RCV000855630RCV001355551RCV003492483RCV003421992RCV005600672

NM_000465.4(BARD1):c.690C>G (p.Asp230Glu) SNV
Germline
Chr2:214781184 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
Criteria Provided
Conflicting Classifications
CA287554 rs_587780034

6 SubmittersRCV000115640RCV000561313RCV000813058RCV004800290

NM_000465.4(BARD1):c.709C>G (p.Gln237Glu) SNV
Germline
Chr2:214781165 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified
BARD1-related cancer predisposition
Criteria Provided
Conflicting Classifications
CA331823 rs_587780035

10 SubmittersRCV000115641RCV000205761RCV000587339RCV002465514RCV005359083

NM_000465.4(BARD1):c.716T>A (p.Leu239Gln) SNV
Germline
Chr2:214781158 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified
Breast and/or ovarian cancer
BARD1-related disorder
Thyroid cancer, nonmedullary, 1
Criteria Provided
Conflicting Classifications
CA287556 rs_200359745

21 SubmittersRCV000115642RCV000206495RCV000212121RCV000779824RCV003492484RCV004739401RCV005887910

NM_000465.4(BARD1):c.776A>G (p.Asp259Gly) SNV
Germline
Chr2:214781098 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified
BARD1-related cancer predisposition
Criteria Provided
Conflicting Classifications
CA331825 rs_587780036

9 SubmittersRCV000115643RCV000197946RCV000212124RCV000781933RCV005600673

NM_000465.4(BARD1):c.79G>C (p.Glu27Gln) SNV
Germline
Chr2:214809491 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA287558 rs_587780037

9 SubmittersRCV000115644RCV000204805RCV000585925RCV001818274

NM_000465.4(BARD1):c.841C>T (p.Pro281Ser) SNV
Germline
Chr2:214781033 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
Criteria Provided
Conflicting Classifications
CA287560 rs_200059956

15 SubmittersRCV000226615RCV000572061RCV000656771RCV001526799RCV002307395

NM_000465.4(BARD1):c.976A>G (p.Asn326Asp) SNV
Germline
Chr2:214780898 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA287562 rs_587780038

8 SubmittersRCV000115646RCV000213809RCV000458970

NM_000465.4(BARD1):c.1568+15G>T SNV
Germline
Chr2:214767467 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Malignant tumor of breast
not specified
Criteria Provided
Conflicting Classifications
CA163527 rs_145936354

8 SubmittersRCV000128899RCV000679333RCV001141499RCV001358417RCV006273538

NM_000465.4(BARD1):c.1013C>A (p.Thr338Asn) SNV
Germline
Chr2:214780861 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
Condition: not provided
Criteria Provided
Conflicting Classifications
CA163716 rs_587781313

7 SubmittersRCV000129042RCV000464058RCV001526908RCV003236781

NM_000465.4(BARD1):c.773T>C (p.Ile258Thr) SNV
Germline
Chr2:214781101 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Hereditary breast ovarian cancer syndrome
BARD1-related cancer predisposition
Criteria Provided
Conflicting Classifications
CA333165 rs_146223579

12 SubmittersRCV000129102RCV000203950RCV000588107RCV001030670RCV005359197

NM_000465.4(BARD1):c.160A>G (p.Thr54Ala) SNV
Germline
Chr2:214797116 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
not specified
Criteria Provided
Conflicting Classifications
CA164088 rs_200254470

10 SubmittersRCV000129266RCV000236190RCV000473762RCV003320570

NM_000465.4(BARD1):c.733C>T (p.Gln245Ter) SNV
Germline
Chr2:214781141 Pathogenic Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA164190 rs_587781430

6 SubmittersRCV000129318RCV000480724RCV000692258

NM_000465.4(BARD1):c.1877A>G (p.Asn626Ser) SNV
Germline
Chr2:214745093 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
Condition: not provided
Breast and/or ovarian cancer
Criteria Provided
Conflicting Classifications
CA164264 rs_587781443

9 SubmittersRCV000129356RCV000458915RCV000587311RCV001546125RCV003149890

NM_000465.4(BARD1):c.1067A>T (p.Asn356Ile) SNV
Germline
Chr2:214780807 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Criteria Provided
Conflicting Classifications
CA164292 rs_577834428

8 SubmittersRCV000129369RCV000234423RCV000758760

NM_000465.4(BARD1):c.835T>C (p.Ser279Pro) SNV
Germline
Chr2:214781039 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Malignant tumor of breast
Criteria Provided
Conflicting Classifications
CA333190 rs_587781456

6 SubmittersRCV000129387RCV000203936RCV000378845RCV001356926

NM_000465.4(BARD1):c.1070T>C (p.Ile357Thr) SNV
Germline
Chr2:214780804 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
BARD1-related cancer predisposition
Criteria Provided
Conflicting Classifications
CA164689 rs_587781555

6 SubmittersRCV000129571RCV000228197RCV003327369RCV005600711

NM_000465.4(BARD1):c.335G>A (p.Arg112Gln) SNV
Germline
Chr2:214792326 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
Condition: not provided
BARD1-related disorder
Criteria Provided
Conflicting Classifications
CA164844 rs_587781591

7 SubmittersRCV000129641RCV000551695RCV000780950RCV002512532RCV003407542

NM_000465.4(BARD1):c.1108C>T (p.Arg370Cys) SNV
Germline
Chr2:214780766 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
BARD1-related cancer predisposition
Criteria Provided
Conflicting Classifications
CA164888 rs_587781596

11 SubmittersRCV000129660RCV000232099RCV000985344RCV005600712

NM_000465.4(BARD1):c.1652C>G (p.Ser551Ter) SNV
Germline
Chr2:214752472 Pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Breast cancer, susceptibility to
BARD1-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA333205 rs_587781707

14 SubmittersRCV000129880RCV000206283RCV000212133RCV000501812RCV004739436

NM_000465.4(BARD1):c.947T>G (p.Leu316Ter) SNV
Germline
Chr2:214780927 Pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA165353 rs_587781728

2 SubmittersRCV000129918RCV003335118

NM_000465.4(BARD1):c.1448A>G (p.His483Arg) SNV
Germline
Chr2:214767602 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Familial pancreatic carcinoma
not specified
BARD1-related cancer predisposition
Criteria Provided
Conflicting Classifications
CA333217 rs_587781874

13 SubmittersRCV000130200RCV000206542RCV001284525RCV001354083RCV004767083RCV005600718

NM_000465.4(BARD1):c.1921C>T (p.Arg641Ter) SNV
Germline
Chr2:214730491 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Triple-Negative Breast Cancer Finding
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Gastric cancer
BARD1-related cancer predisposition
Criteria Provided
Multiple Submitters
No Conflicts
CA166173 rs_587781948

21 SubmittersRCV000130318RCV000234673RCV000236005RCV000678227RCV000781932RCV001355804RCV003162583RCV005600720

NM_000465.4(BARD1):c.1409A>G (p.Asn470Ser) SNV
Germline
Chr2:214767641 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome
BARD1-related cancer predisposition
Criteria Provided
Conflicting Classifications
CA333223 rs_587781976

17 SubmittersRCV000130369RCV000197585RCV000212130RCV001174926RCV002225431RCV005600721

NM_000465.4(BARD1):c.1216C>G (p.Arg406Gly) SNV
Germline
Chr2:214780658 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA294208 rs_377153250

6 SubmittersRCV000130569RCV000212125RCV000685720

NM_000465.4(BARD1):c.1793C>T (p.Thr598Ile) SNV
Germline
Chr2:214745739 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified
BARD1-related cancer predisposition
Criteria Provided
Conflicting Classifications
CA166812 rs_376256852

11 SubmittersRCV000130644RCV000230852RCV000487282RCV003320571RCV005359241

NM_000465.4(BARD1):c.2083G>A (p.Val695Ile) SNV
Germline
Chr2:214728927 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
BARD1-related disorder
BARD1-related cancer predisposition
Criteria Provided
Conflicting Classifications
CA166844 rs_111367604

9 SubmittersRCV000130659RCV000474704RCV000484351RCV003398765RCV005600724

NM_000465.4(BARD1):c.2192G>A (p.Arg731His) SNV
Germline
Chr2:214728818 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA167457 rs_587782248

7 SubmittersRCV000130957RCV000235487RCV000543499

NM_000465.4(BARD1):c.346C>T (p.His116Tyr) SNV
Germline
Chr2:214792315 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified
Malignant tumor of breast
BARD1-related disorder
Criteria Provided
Conflicting Classifications
CA294279 rs_144856889

13 SubmittersRCV000131018RCV000205245RCV000590105RCV000855574RCV001357830RCV004739450

NM_000465.4(BARD1):c.568G>A (p.Asp190Asn) SNV
Germline
Chr2:214781306 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified
Malignant tumor of breast
Breast and/or ovarian cancer
Criteria Provided
Conflicting Classifications
CA333240 rs_369561166

18 SubmittersRCV000131169RCV000206249RCV000586963RCV001175546RCV001355491RCV003492614

NM_000465.4(BARD1):c.308G>A (p.Ser103Asn) SNV
Germline
Chr2:214792353 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
BARD1-related disorder
not specified
Criteria Provided
Conflicting Classifications
CA294324 rs_145629242

13 SubmittersRCV000131209RCV000200605RCV000212110RCV003407553RCV006452442

NM_000465.4(BARD1):c.659T>C (p.Leu220Ser) SNV
Germline
Chr2:214781215 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified
Malignant tumor of breast
Criteria Provided
Conflicting Classifications
CA333244 rs_138593305

17 SubmittersRCV000131224RCV000205881RCV000585398RCV000855575RCV001357448

NM_000465.4(BARD1):c.946T>G (p.Leu316Val) SNV
Germline
Chr2:214780928 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Criteria Provided
Conflicting Classifications
CA167816 rs_587782325

8 SubmittersRCV000131232RCV000525698RCV001283885

NM_000465.4(BARD1):c.1127C>T (p.Ser376Leu) SNV
Germline
Chr2:214780747 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome
BARD1-related cancer predisposition
Criteria Provided
Conflicting Classifications
CA167877 rs_587782333

13 SubmittersRCV000131256RCV000199235RCV000236301RCV001251335RCV005251077RCV005359256

NM_000465.4(BARD1):c.1835A>T (p.Asp612Val) SNV
Germline
Chr2:214745135 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified
Breast and/or ovarian cancer
Hereditary cancer
Criteria Provided
Conflicting Classifications
CA333248 rs_201140528

15 SubmittersRCV000131406RCV000205160RCV000590537RCV001174675RCV003492619RCV004700450

NM_000465.4(BARD1):c.2104A>G (p.Ile702Val) SNV
Germline
Chr2:214728906 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Criteria Provided
Conflicting Classifications
CA168186 rs_587782415

5 SubmittersRCV000131457RCV001071201RCV001775626

NM_000465.4(BARD1):c.97G>C (p.Ala33Pro) SNV
Germline
Chr2:214809473 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
not specified
BARD1-related cancer predisposition
Criteria Provided
Conflicting Classifications
CA168351 rs_587782465

11 SubmittersRCV000131555RCV000235721RCV000461802RCV001582606RCV005600735

NM_000465.4(BARD1):c.2129A>T (p.Asp710Val) SNV
Germline
Chr2:214728881 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
Condition: not provided
BARD1-related cancer predisposition
Criteria Provided
Conflicting Classifications
CA168404 rs_150121935

11 SubmittersRCV000131586RCV000198509RCV000236887RCV001857462RCV005359273

NM_000465.4(BARD1):c.2075T>C (p.Ile692Thr) SNV
Germline
Chr2:214728935 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified
BARD1-related disorder
Criteria Provided
Conflicting Classifications
CA333275 rs_587782555

9 SubmittersRCV000131771RCV000206765RCV000521519RCV003493459RCV004739458

NM_000465.4(BARD1):c.95G>T (p.Gly32Val) SNV
Germline
Chr2:214809475 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Hereditary breast ovarian cancer syndrome
not specified
BARD1-related cancer predisposition
Criteria Provided
Conflicting Classifications
CA169260 rs_587782675

9 SubmittersRCV000132101RCV000542693RCV001030676RCV001174898RCV005359289

NM_000465.4(BARD1):c.1212C>G (p.Tyr404Ter) SNV
Germline
Chr2:214780662 Pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Hereditary breast ovarian cancer syndrome
BARD1-related disorder
BARD1-related cancer predisposition
Autosomal dominant BARD1-related cancer types
Criteria Provided
Multiple Submitters
No Conflicts
CA169272 rs_587782681

18 SubmittersRCV000132107RCV000195626RCV000413940RCV001201181RCV003945152RCV005359290RCV006699210

NM_000465.4(BARD1):c.119C>T (p.Ala40Val) SNV
Germline
Chr2:214809451 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA333289 rs_71579841

11 SubmittersRCV000132381RCV000198072RCV000480381RCV001264532

NM_000465.4(BARD1):c.581G>A (p.Arg194Lys) SNV
Germline
Chr2:214781293 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified
BARD1-related cancer predisposition
Criteria Provided
Conflicting Classifications
CA169829 rs_181748854

10 SubmittersRCV000132426RCV000230484RCV000485505RCV001174906RCV005600745

NM_000465.4(BARD1):c.2294A>G (p.Asp765Gly) SNV
Germline
Chr2:214728716 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
not specified
Malignant tumor of breast
Criteria Provided
Conflicting Classifications
CA298486 rs_730881426

8 SubmittersRCV000159826RCV000212145RCV000475914RCV000779829RCV001355162

NM_000465.4(BARD1):c.2248G>A (p.Val750Ile) SNV
Germline
Chr2:214728762 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA298482 rs_34677017

6 SubmittersRCV000220702RCV000586005RCV000800753

NM_000465.4(BARD1):c.2179G>A (p.Asp727Asn) SNV
Germline
Chr2:214728831 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Criteria Provided
Conflicting Classifications
CA298480 rs_730881424

8 SubmittersRCV000570038RCV000635642RCV000679340

NM_000465.4(BARD1):c.1996C>T (p.Gln666Ter) SNV
Germline
Chr2:214730416 Pathogenic/Likely pathogenic Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA298474 rs_730881422

8 SubmittersRCV000159820RCV000225939RCV000222541

NM_000465.4(BARD1):c.1808C>A (p.Thr603Lys) SNV
Germline
Chr2:214745724 Conflicting classifications of pathogenicity Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified
Criteria Provided
Conflicting Classifications
CA298472 rs_730881421

8 SubmittersRCV000159819RCV000474889RCV000564659RCV002229764

NM_000465.4(BARD1):c.1360C>G (p.Pro454Ala) SNV
Germline
Chr2:214769267 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
not specified
Criteria Provided
Conflicting Classifications
CA298438 rs_730881408

10 SubmittersRCV000159802RCV000212129RCV000234332RCV003114308

NM_000465.4(BARD1):c.1347A>G (p.Gln449=) SNV
Germline
Chr2:214769280 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
Triple-Negative Breast Cancer Finding
Condition: not provided
Familial ovarian cancer
BARD1-related disorder
Breast and/or ovarian cancer
Criteria Provided
Conflicting Classifications
CA298431 rs_373257776

16 SubmittersRCV000159796RCV000199945RCV000212128RCV000678224RCV000858081RCV001355909RCV003398822RCV003492642

NM_000465.4(BARD1):c.1339C>G (p.Leu447Val) SNV
Germline
Chr2:214769288 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
Condition: not provided
BARD1-related cancer predisposition
Criteria Provided
Conflicting Classifications
CA298464 rs_376727038

17 SubmittersRCV000159815RCV000230416RCV000212127RCV000656772RCV005359347

NM_000465.4(BARD1):c.1109G>A (p.Arg370His) SNV
Germline
Chr2:214780765 Conflicting classifications of pathogenicity Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA298460 rs_730881416

5 SubmittersRCV000159813RCV000700132RCV001017347

NM_000465.4(BARD1):c.1016G>A (p.Ser339Asn) SNV
Germline
Chr2:214780858 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
Breast and/or ovarian cancer
BARD1-related cancer predisposition
Criteria Provided
Conflicting Classifications
CA298458 rs_201261729

13 SubmittersRCV000159812RCV000216014RCV000524916RCV000780951RCV003492644RCV005359345

NM_000465.4(BARD1):c.783A>G (p.Leu261=) SNV
Germline
Chr2:214781091 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Breast and/or ovarian cancer
Condition: not provided
Hepatocellular carcinoma
Criteria Provided
Conflicting Classifications
CA298429 rs_201862973

13 SubmittersRCV000159795RCV000219687RCV000476533RCV003492641RCV003477571RCV005888569

NM_000465.4(BARD1):c.607G>T (p.Gly203Ter) SNV
Germline
Chr2:214781267 Pathogenic Condition: not provided
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA298456 rs_730881415

2 SubmittersRCV000159811RCV001850251

NM_000465.4(BARD1):c.465A>G (p.Arg155=) SNV
Germline
Chr2:214781409 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Hereditary breast ovarian cancer syndrome
Criteria Provided
Conflicting Classifications
CA298448 rs_730881413

9 SubmittersRCV000159807RCV000199429RCV000212115RCV001543125

NM_000465.4(BARD1):c.448C>T (p.Arg150Ter) SNV
Germline
Chr2:214781426 Pathogenic Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Gastric cancer
BARD1-related cancer predisposition
Criteria Provided
Multiple Submitters
No Conflicts
CA298444 rs_730881411

14 SubmittersRCV000159805RCV000213814RCV000471276RCV001030673RCV001293502RCV003162672RCV005359344

NM_000465.4(BARD1):c.215+12C>T SNV
Germline
Chr2:214797049 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Breast and/or ovarian cancer
Criteria Provided
Conflicting Classifications
CA298428 rs_373816832

6 SubmittersRCV000159792RCV000580823RCV002053915RCV003492640

NM_000465.4(BARD1):c.2280G>A (p.Ser760=) SNV
Germline
Chr2:214728730 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Familial cancer of breast
Malignant tumor of breast
Criteria Provided
Conflicting Classifications
CA188501 rs_749959440

11 SubmittersRCV000163516RCV000469571RCV000506402RCV001085037RCV001355524

NM_000465.4(BARD1):c.2268G>A (p.Trp756Ter) SNV
Germline
Chr2:214728742 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
BARD1-related cancer predisposition
Criteria Provided
Multiple Submitters
No Conflicts
CA191740 rs_786202118

4 SubmittersRCV000164774RCV003500508RCV006554481

NM_000465.4(BARD1):c.2255A>G (p.Gln752Arg) SNV
Germline
Chr2:214728755 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
Criteria Provided
Conflicting Classifications
CA190373 rs_755369095

3 SubmittersRCV000164220RCV000463776RCV003479034

NM_000465.4(BARD1):c.2191C>T (p.Arg731Cys) SNV
Germline
Chr2:214728819 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Ovarian cancer
BARD1-related cancer predisposition
Criteria Provided
Conflicting Classifications
CA333916 rs_76744638

11 SubmittersRCV000167289RCV000204878RCV000483971RCV003153458RCV005600796

NM_000465.4(BARD1):c.2082C>T (p.Leu694=) SNV
Germline
Chr2:214728928 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Familial cancer of breast
BARD1-related disorder
Criteria Provided
Conflicting Classifications
CA194479 rs_139620052

8 SubmittersRCV000165901RCV000419050RCV000636008RCV003975237

NM_000465.4(BARD1):c.1904-5G>A SNV
Germline
Chr2:214730513 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome
Criteria Provided
Conflicting Classifications
CA192419 rs_376639978

9 SubmittersRCV000165063RCV000635980RCV001251377RCV001711443RCV005359496

NM_000465.4(BARD1):c.1613G>A (p.Ser538Asn) SNV
Germline
Chr2:214752511 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified
BARD1-related cancer predisposition
Criteria Provided
Conflicting Classifications
CA194054 rs_370771157

12 SubmittersRCV000165715RCV000206723RCV000679334RCV002469037RCV005600783

NM_000465.4(BARD1):c.1586G>A (p.Arg529Gln) SNV
Germline
Chr2:214752538 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Familial pancreatic carcinoma
not specified
BARD1-related cancer predisposition
Criteria Provided
Conflicting Classifications
CA198126 rs_753479021

12 SubmittersRCV000167371RCV000226041RCV000485842RCV001357502RCV001582659RCV005600797

NM_000465.4(BARD1):c.1585C>T (p.Arg529Trp) SNV
Germline
Chr2:214752539 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified
BARD1-related disorder
BARD1-related cancer predisposition
Criteria Provided
Conflicting Classifications
CA333867 rs_375515606

12 SubmittersRCV000164385RCV000205438RCV000485744RCV003479035RCV004739518RCV005600770

NM_000465.4(BARD1):c.1473G>A (p.Gly491=) SNV
Germline
Chr2:214767577 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Familial cancer of breast
BARD1-related disorder
BARD1-related cancer predisposition
Criteria Provided
Conflicting Classifications
CA187765 rs_151080730

12 SubmittersRCV000163219RCV000438192RCV000531846RCV001085196RCV003927535RCV005359414

NM_000465.4(BARD1):c.1317C>T (p.Gly439=) SNV
Germline
Chr2:214769310 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Familial cancer of breast
Condition: not provided
Criteria Provided
Conflicting Classifications
CA195728 rs_369986649

6 SubmittersRCV000166386RCV000606302RCV001056190RCV000997656

NM_000465.4(BARD1):c.1268A>G (p.Lys423Arg) SNV
Germline
Chr2:214780606 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
BARD1-related disorder
Criteria Provided
Conflicting Classifications
CA196559 rs_749383704

11 SubmittersRCV000166718RCV000482421RCV000635819RCV003407620

NM_000465.4(BARD1):c.1159T>C (p.Phe387Leu) SNV
Germline
Chr2:214780715 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
not specified
Criteria Provided
Conflicting Classifications
CA195649 rs_759370463

10 SubmittersRCV000166361RCV000236125RCV000228647RCV003987385

NM_000465.4(BARD1):c.1153G>A (p.Asp385Asn) SNV
Germline
Chr2:214780721 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome
Criteria Provided
Conflicting Classifications
CA195222 rs_587782436

8 SubmittersRCV000166197RCV000475001RCV000480359RCV001201307RCV002225486

NM_000465.4(BARD1):c.1152C>T (p.Ser384=) SNV
Germline
Chr2:214780722 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Triple-Negative Breast Cancer Finding
Familial cancer of breast
not specified
Criteria Provided
Conflicting Classifications
CA190263 rs_368291318

13 SubmittersRCV000164186RCV000590620RCV000678223RCV001080316RCV001281718

NM_000465.4(BARD1):c.1148T>A (p.Met383Lys) SNV
Germline
Chr2:214780726 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Familial ovarian cancer
Condition: not provided
Criteria Provided
Conflicting Classifications
CA190846 rs_763596413

9 SubmittersRCV000164393RCV000462462RCV001354646RCV001569258

NM_000465.4(BARD1):c.1136A>G (p.Lys379Arg) SNV
Germline
Chr2:214780738 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
BARD1-related disorder
not specified
Criteria Provided
Conflicting Classifications
CA196078 rs_750827325

7 SubmittersRCV000166517RCV000692255RCV001284378RCV003947432RCV003987387

NM_000465.4(BARD1):c.1084T>G (p.Cys362Gly) SNV
Germline
Chr2:214780790 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Criteria Provided
Conflicting Classifications
CA190505 rs_141351035

7 SubmittersRCV000164272RCV000470186RCV000478667

NM_000465.4(BARD1):c.1061C>G (p.Ser354Ter) SNV
Germline
Chr2:214780813 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA193360 rs_786202559

5 SubmittersRCV000165421RCV000810857RCV005001010

NM_000465.4(BARD1):c.842C>T (p.Pro281Leu) SNV
Germline
Chr2:214781032 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome
BARD1-related disorder
BARD1-related cancer predisposition
Hereditary cancer
Criteria Provided
Conflicting Classifications
CA193386 rs_367890377

14 SubmittersRCV000165427RCV000204860RCV000236294RCV002509267RCV002225483RCV004739525RCV005600781RCV005235069

NM_000465.4(BARD1):c.735A>G (p.Gln245=) SNV
Germline
Chr2:214781139 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Familial cancer of breast
Hereditary breast ovarian cancer syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA186822 rs_763378916

10 SubmittersRCV000162728RCV000439334RCV000553056RCV005365060RCV005641517

NM_000465.4(BARD1):c.644A>G (p.Asn215Ser) SNV
Germline
Chr2:214781230 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
not specified
BARD1-related cancer predisposition
Criteria Provided
Conflicting Classifications
CA188538 rs_774929973

10 SubmittersRCV000163529RCV000237014RCV000461423RCV000781938RCV005600767

NM_000465.4(BARD1):c.565G>A (p.Ala189Thr) SNV
Germline
Chr2:214781309 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
Criteria Provided
Conflicting Classifications
CA191704 rs_786202110

4 SubmittersRCV000164758RCV000635712RCV002247567

NM_000465.4(BARD1):c.496C>T (p.Gln166Ter) SNV
Germline
Chr2:214781378 Pathogenic Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
BARD1-related cancer predisposition
Criteria Provided
Multiple Submitters
No Conflicts
CA193142 rs_786202500

7 SubmittersRCV000165343RCV000437177RCV000691023RCV005600780

NM_000465.4(BARD1):c.476G>A (p.Ser159Asn) SNV
Germline
Chr2:214781398 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA195899 rs_786203226

5 SubmittersRCV000166447RCV000226311RCV000479746RCV001192857

NM_000465.4(BARD1):c.334C>T (p.Arg112Ter) SNV
Germline
Chr2:214792327 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Breast and/or ovarian cancer
Malignant tumor of breast
Autosomal dominant BARD1-related disorders
Criteria Provided
Multiple Submitters
No Conflicts
CA191137 rs_758972589

12 SubmittersRCV000164507RCV000233846RCV000413073RCV001270959RCV002281980RCV006554480

NM_000465.4(BARD1):c.298C>T (p.Gln100Ter) SNV
Germline
Chr2:214792363 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
BARD1-related cancer predisposition
Criteria Provided
Multiple Submitters
No Conflicts
CA190946 rs_786201912

10 SubmittersRCV000164438RCV000459220RCV002307421RCV005600774

NM_000465.4(BARD1):c.279A>G (p.Gln93=) SNV
Germline
Chr2:214792382 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
BARD1-related disorder
BARD1-related cancer predisposition
Criteria Provided
Conflicting Classifications
CA186410 rs_370000575

12 SubmittersRCV000162525RCV000206287RCV000434949RCV003927533RCV005359392

NM_000465.4(BARD1):c.267G>A (p.Pro89=) SNV
Germline
Chr2:214792394 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA187834 rs_756165637

8 SubmittersRCV000163243RCV000686113RCV001721041RCV006456753

NM_000465.4(BARD1):c.159T>C (p.Cys53=) SNV
Germline
Chr2:214797117 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Breast and/or ovarian cancer
BARD1-related disorder
Criteria Provided
Conflicting Classifications
CA194230 rs_201708813

9 SubmittersRCV000165804RCV000198977RCV001085437RCV003491903RCV003954979

NM_000465.4(BARD1):c.144G>A (p.Leu48=) SNV
Germline
Chr2:214809426 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Breast and/or ovarian cancer
Criteria Provided
Conflicting Classifications
CA333850 rs_151168457

11 SubmittersRCV000163861RCV000587640RCV001079693RCV003492683

NM_000465.4(BARD1):c.73G>C (p.Ala25Pro) SNV
Germline
Chr2:214809497 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Malignant tumor of breast
not specified
BARD1-related cancer predisposition
Criteria Provided
Conflicting Classifications
CA333878 rs_751646468

10 SubmittersRCV000164946RCV000203712RCV001354641RCV002465549RCV005600778

NM_000465.4(BARD1):c.-4G>A SNV
Germline
Chr2:214809573 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
BARD1-related disorder
Hereditary cancer
not specified
Criteria Provided
Conflicting Classifications
CA189055 rs_761863671

9 SubmittersRCV000163727RCV000588551RCV001356902RCV003895113RCV004698828RCV005889603

NM_000465.4(BARD1):c.2216A>G (p.Tyr739Cys) SNV
Germline
Chr2:214728794 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA339298 rs_777013688

11 SubmittersRCV000200408RCV000220244RCV000392820RCV006273625

NM_000465.4(BARD1):c.1060T>A (p.Ser354Thr) SNV
Germline
Chr2:214780814 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Condition: not provided
BARD1-related disorder
Criteria Provided
Conflicting Classifications
CA337598 rs_863224670

8 SubmittersRCV000198033RCV000214176RCV001357819RCV003327379RCV003401081

NM_000465.4(BARD1):c.71C>G (p.Pro24Arg) SNV
Germline
Chr2:214809499 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA336143 rs_863224674

7 SubmittersRCV000196061RCV000219522RCV003477670

NM_000465.4(BARD1):c.2057A>G (p.His686Arg) SNV
Germline
Chr2:214728953 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA348340 rs_864622380

7 SubmittersRCV000204083RCV000220357RCV000481119

NM_000465.4(BARD1):c.1904-2A>T SNV
Germline
Chr2:214730510 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA350672 rs_864622239

3 SubmittersRCV000206670RCV002408889

NM_000465.4(BARD1):c.1678A>G (p.Met560Val) SNV
Germline
Chr2:214745854 Conflicting classifications of pathogenicity Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
BARD1-related cancer predisposition
Criteria Provided
Conflicting Classifications
CA350148 rs_587780020

8 SubmittersRCV000206080RCV000479722RCV000771293RCV005361181

NM_000465.4(BARD1):c.1601C>T (p.Thr534Ile) SNV
Germline
Chr2:214752523 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Ovarian cancer
BARD1-related cancer predisposition
Criteria Provided
Conflicting Classifications
CA350610 rs_374293292

10 SubmittersRCV000206592RCV000217210RCV002469066RCV003153479RCV005600814

NM_000465.4(BARD1):c.1240A>T (p.Met414Leu) SNV
Germline
Chr2:214780634 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Criteria Provided
Conflicting Classifications
CA350391 rs_759601398

7 SubmittersRCV000206347RCV000573295RCV001192859RCV002260630

NM_000465.4(BARD1):c.1077G>T (p.Leu359Phe) SNV
Germline
Chr2:214780797 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Ovarian cancer
Criteria Provided
Conflicting Classifications
CA348822 rs_864622283

3 SubmittersRCV000204604RCV002415866RCV003153484

NM_000465.4(BARD1):c.907G>C (p.Val303Leu) SNV
Germline
Chr2:214780967 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA348824 rs_375048835

4 SubmittersRCV000204605RCV002372201RCV003477698

NM_000465.4(BARD1):c.684A>G (p.Glu228=) SNV
Germline
Chr2:214781190 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Criteria Provided
Conflicting Classifications
CA350659 rs_780627045

5 SubmittersRCV000213234RCV001088108RCV006259181

NM_000465.4(BARD1):c.566C>T (p.Ala189Val) SNV
Germline
Chr2:214781308 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
BARD1-related disorder
Criteria Provided
Conflicting Classifications
CA348210 rs_864622686

6 SubmittersRCV000203931RCV000216695RCV002271463RCV004719757RCV004739601

NM_000465.4(BARD1):c.293A>G (p.Asn98Ser) SNV
Germline
Chr2:214792368 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA350831 rs_763707275

2 SubmittersRCV000206838RCV003165488

NM_000465.4(BARD1):c.2224T>A (p.Leu742Met) SNV
Germline
Chr2:214728786 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10577761 rs_876659765

6 SubmittersRCV000215561RCV000691932RCV001283882

NM_000465.4(BARD1):c.2181T>G (p.Asp727Glu) SNV
Germline
Chr2:214728829 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA10577764 rs_876660554

3 SubmittersRCV000219564RCV002515731

NM_000465.4(BARD1):c.2054A>G (p.His685Arg) SNV
Germline
Chr2:214728956 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2090080 rs_368488821

6 SubmittersRCV000217333RCV000559010RCV003323462RCV004998491

NM_000465.4(BARD1):c.2002-2A>T SNV
Germline
Chr2:214729010 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA10577770 rs_876658260

5 SubmittersRCV000217545RCV000691382

NM_000465.4(BARD1):c.1973G>A (p.Arg658His) SNV
Germline
Chr2:214730439 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome
BARD1-related disorder
Hereditary cancer
Criteria Provided
Conflicting Classifications
CA2090111 rs_377227840

14 SubmittersRCV000223283RCV000228912RCV000430001RCV000589126RCV002225516RCV003407748RCV003491968

NM_000465.4(BARD1):c.1922G>A (p.Arg641Gln) SNV
Germline
Chr2:214730490 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2090115 rs_752870879

6 SubmittersRCV000219953RCV000232354RCV000483818

NM_000465.4(BARD1):c.1904-3C>T SNV
Germline
Chr2:214730511 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
Criteria Provided
Conflicting Classifications
CA10577780 rs_876660360

5 SubmittersRCV000214963RCV000686199RCV001174928

NM_000465.4(BARD1):c.1903+1G>T SNV
Germline
Chr2:214745066 Likely pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA10577781 rs_876660237

3 SubmittersRCV000220803RCV002515701

NM_000465.4(BARD1):c.1810+1G>A SNV
Germline
Chr2:214745721 Likely pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA10577783 rs_876659894

4 SubmittersRCV000215189RCV002515675RCV003488477

NM_000465.4(BARD1):c.1724G>A (p.Ser575Asn) SNV
Germline
Chr2:214745808 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2090181 rs_774352844

7 SubmittersRCV000220167RCV000547252RCV000781931RCV001589147

NM_000465.4(BARD1):c.1714C>T (p.Leu572Phe) SNV
Germline
Chr2:214745818 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2090182 rs_772222117

7 SubmittersRCV000219042RCV000474211RCV000767169

NM_000465.4(BARD1):c.1639G>T (p.Glu547Ter) SNV
Germline
Chr2:214752485 Pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA10577794 rs_876658429

3 SubmittersRCV000213181RCV003335242

NM_000465.4(BARD1):c.1598A>T (p.Tyr533Phe) SNV
Germline
Chr2:214752526 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Hepatocellular carcinoma
Criteria Provided
Conflicting Classifications
CA2090214 rs_761673463

7 SubmittersRCV000213824RCV000526059RCV001546645RCV005895042

NM_000465.4(BARD1):c.1525A>G (p.Ile509Val) SNV
Germline
Chr2:214767525 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA10577801 rs_876658576

5 SubmittersRCV000215779RCV000560609

NM_000465.4(BARD1):c.1353A>T (p.Gly451=) SNV
Germline
Chr2:214769274 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA2090278 rs_369564500

7 SubmittersRCV000217509RCV000226879RCV002243896RCV003387811

NM_000465.4(BARD1):c.1264G>A (p.Val422Met) SNV
Germline
Chr2:214780610 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA10577816 rs_876660910

3 SubmittersRCV000213789RCV002516182

NM_000465.4(BARD1):c.1216C>T (p.Arg406Ter) SNV
Germline
Chr2:214780658 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Breast carcinoma
Hereditary breast ovarian cancer syndrome
Malignant tumor of esophagus
Criteria Provided
Multiple Submitters
No Conflicts
CA2090324 rs_377153250

19 SubmittersRCV000217217RCV000560121RCV000657592RCV001554323RCV002225514RCV005895028

NM_000465.4(BARD1):c.1052C>T (p.Thr351Met) SNV
Germline
Chr2:214780822 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Malignant tumor of breast
Criteria Provided
Conflicting Classifications
CA2090345 rs_767208122

8 SubmittersRCV000215474RCV000228874RCV000486938RCV001357827

NM_000465.4(BARD1):c.907G>A (p.Val303Ile) SNV
Germline
Chr2:214780967 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
Criteria Provided
Conflicting Classifications
CA2090367 rs_375048835

6 SubmittersRCV000217260RCV000468062RCV001269246

NM_000465.4(BARD1):c.896C>G (p.Thr299Ser) SNV
Germline
Chr2:214780978 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA10577830 rs_141934748

2 SubmittersRCV000219572RCV001202506

NM_000465.4(BARD1):c.826A>G (p.Thr276Ala) SNV
Germline
Chr2:214781048 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA10577832 rs_876659291

2 SubmittersRCV000222445RCV002515634

NM_000465.4(BARD1):c.748T>G (p.Ser250Ala) SNV
Germline
Chr2:214781126 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA10577834 rs_570022823

2 SubmittersRCV000217405RCV000457263

NM_000465.4(BARD1):c.709C>T (p.Gln237Ter) SNV
Germline
Chr2:214781165 Pathogenic Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA10577838 rs_587780035

3 SubmittersRCV000221541RCV000486426RCV003335240

NM_000465.4(BARD1):c.676G>C (p.Asp226His) SNV
Germline
Chr2:214781198 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10577839 rs_876659965

7 SubmittersRCV000221827RCV000230323RCV002291601

NM_000465.4(BARD1):c.656A>G (p.Asn219Ser) SNV
Germline
Chr2:214781218 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10577840 rs_876660672

3 SubmittersRCV000218798RCV003477767

NM_000465.4(BARD1):c.617A>G (p.Gln206Arg) SNV
Germline
Chr2:214781257 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA10577841 rs_760718143

3 SubmittersRCV000221813RCV001049658

NM_000465.4(BARD1):c.607G>A (p.Gly203Arg) SNV
Germline
Chr2:214781267 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10577842 rs_730881415

5 SubmittersRCV000216447RCV000689233RCV001705224

NM_000465.4(BARD1):c.592G>T (p.Ala198Ser) SNV
Germline
Chr2:214781282 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2090405 rs_748834249

5 SubmittersRCV000215501RCV000475185RCV003156234

NM_000465.4(BARD1):c.568G>T (p.Asp190Tyr) SNV
Germline
Chr2:214781306 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA2090408 rs_369561166

2 SubmittersRCV000218063RCV000824534

NM_000465.4(BARD1):c.562C>T (p.Pro188Ser) SNV
Germline
Chr2:214781312 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA2090410 rs_373249008

3 SubmittersRCV000218801RCV000560844

NM_000465.4(BARD1):c.556A>G (p.Ser186Gly) SNV
Germline
Chr2:214781318 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
not specified
Ovarian cancer
Criteria Provided
Conflicting Classifications
CA2090411 rs_16852741

13 SubmittersRCV000218269RCV000459373RCV000589629RCV001030671RCV001356858RCV002307449RCV003153499

NM_000465.4(BARD1):c.493A>T (p.Thr165Ser) SNV
Germline
Chr2:214781381 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10577846 rs_876658147

6 SubmittersRCV000218271RCV000230133RCV003328565

NM_000465.4(BARD1):c.277C>T (p.Gln93Ter) SNV
Germline
Chr2:214792384 Pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA10577853 rs_876658571

2 SubmittersRCV000219047RCV000635720

NM_000465.4(BARD1):c.216-1G>A SNV
Germline
Chr2:214792446 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA10577857 rs_876658905

4 SubmittersRCV000217544RCV001065792

NM_000465.4(BARD1):c.86A>T (p.Asp29Val) SNV
Germline
Chr2:214809484 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10577864 rs_777491507

5 SubmittersRCV000217089RCV000560249RCV001762477

NM_000465.4(BARD1):c.55G>T (p.Glu19Ter) SNV
Germline
Chr2:214809515 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
BARD1-related cancer predisposition
Criteria Provided
Multiple Submitters
No Conflicts
CA2090530 rs_752514155

10 SubmittersRCV000215389RCV000458694RCV000482172RCV006554504

NM_000465.4(BARD1):c.2237A>G (p.His746Arg) SNV
Germline
Chr2:214728773 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA10581918 rs_878854007

2 SubmittersRCV000230635RCV002429098

NM_000465.4(BARD1):c.2146A>G (p.Thr716Ala) SNV
Germline
Chr2:214728864 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10581919 rs_878854006

7 SubmittersRCV000226287RCV000568622RCV000780943RCV001574891

NM_000465.4(BARD1):c.1247T>G (p.Leu416Arg) SNV
Germline
Chr2:214780627 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Hepatoblastoma
Criteria Provided
Conflicting Classifications
CA10581930 rs_878853996

12 SubmittersRCV000227805RCV000564518RCV001566238RCV001553565RCV001843497

NM_000465.4(BARD1):c.1172C>G (p.Ser391Ter) SNV
Germline
Chr2:214780702 Pathogenic/Likely pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA10581931 rs_878853995

3 SubmittersRCV000231412RCV003584574

NM_000465.4(BARD1):c.1007G>A (p.Cys336Tyr) SNV
Germline
Chr2:214780867 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2090348 rs_779527817

9 SubmittersRCV000230578RCV000561387RCV002298544RCV003441808

NM_000465.4(BARD1):c.382C>T (p.Pro128Ser) SNV
Germline
Chr2:214781492 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA10581940 rs_878854011

7 SubmittersRCV000228060RCV000563282RCV001354376RCV003387815

NM_000465.4(BARD1):c.93C>G (p.Arg31=) SNV
Germline
Chr2:214809477 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
BARD1-related disorder
not specified
Criteria Provided
Conflicting Classifications
CA2090518 rs_778803692

8 SubmittersRCV000231602RCV000565230RCV001697225RCV003955310RCV006268686

NM_000465.4(BARD1):c.59C>T (p.Pro20Leu) SNV
Germline
Chr2:214809511 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
BARD1-related cancer predisposition
Criteria Provided
Conflicting Classifications
CA2090528 rs_753686197

6 SubmittersRCV000233249RCV000774689RCV005251102RCV005600853

NM_000465.4(BARD1):c.2242G>A (p.Glu748Lys) SNV
Germline
Chr2:214728768 Conflicting classifications of pathogenicity Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA10584170 rs_879253880

3 SubmittersRCV000236030RCV001337193RCV005771959

NM_000465.4(BARD1):c.1811-1G>A SNV
Germline
Chr2:214745160 Likely pathogenic Condition: not provided
Familial cancer of breast
Hereditary breast ovarian cancer syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA10584173 rs_879253952

4 SubmittersRCV000236120RCV001854853RCV004764783

NM_000465.4(BARD1):c.1314+14T>C SNV
Germline
Chr2:214780546 Conflicting classifications of pathogenicity Condition: not provided
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA10584177 rs_879254117

2 SubmittersRCV000235524RCV006612276

NM_000465.4(BARD1):c.764A>G (p.Asn255Ser) SNV
Germline
Chr2:214781110 Conflicting classifications of pathogenicity Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
Criteria Provided
Conflicting Classifications
CA2090382 rs_138904906

12 SubmittersRCV000236599RCV000529895RCV000573274RCV000780946RCV001357269RCV002225531

NM_000465.4(BARD1):c.760A>C (p.Ile254Leu) SNV
Germline
Chr2:214781114 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA10584180 rs_879253984

5 SubmittersRCV000236884RCV000569631RCV000558386

NM_000465.4(BARD1):c.304G>A (p.Asp102Asn) SNV
Germline
Chr2:214792357 Conflicting classifications of pathogenicity Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA10584182 rs_140254589

4 SubmittersRCV000586120RCV000635867RCV001018325

NM_000465.4(BARD1):c.161C>G (p.Thr54Ser) SNV
Germline
Chr2:214797115 Conflicting classifications of pathogenicity Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Criteria Provided
Conflicting Classifications
CA10584183 rs_879253878

5 SubmittersRCV000236536RCV000463541RCV000571266RCV003492016

NM_000465.4(BARD1):c.159-1G>T SNV
Germline
Chr2:214797118 Pathogenic/Likely pathogenic Condition: not provided
Familial cancer of breast
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA10584184 rs_879254139

14 SubmittersRCV000235953RCV000552182RCV000587901RCV000565922

NM_000465.4(BARD1):c.102G>A (p.Trp34Ter) SNV
Germline
Chr2:214809468 Pathogenic/Likely pathogenic Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA10584185 rs_879254280

6 SubmittersRCV000236996RCV000575860RCV000699165

NM_000465.4(BARD1):c.2002-2A>C SNV
Germline
Chr2:214729010 Conflicting classifications of pathogenicity Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
BARD1-related cancer predisposition
Criteria Provided
Conflicting Classifications
CA10588331 rs_876658260

5 SubmittersRCV000254847RCV000635764RCV001014054RCV005600883

NM_000465.4(BARD1):c.928T>G (p.Ser310Ala) SNV
Germline
Chr2:214780946 Conflicting classifications of pathogenicity Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified
Criteria Provided
Conflicting Classifications
CA10602837 rs_886041139

7 SubmittersRCV000284245RCV000524789RCV000569301RCV003987485

NM_000465.4(BARD1):c.245G>T (p.Gly82Val) SNV
Germline
Chr2:214792416 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA10614212 rs_886055600

4 SubmittersRCV000635842RCV000580143

NM_000465.4(BARD1):c.216-14T>C SNV
Germline
Chr2:214792459 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA2090471 rs_775103922

4 SubmittersRCV000367198RCV000776445

NM_000465.4(BARD1):c.215+13G>A SNV
Germline
Chr2:214797048 Conflicting classifications of pathogenicity Familial cancer of breast
not specified
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA10614214 rs_886055601

5 SubmittersRCV000277248RCV000425858RCV000773109

NM_000465.4(BARD1):c.158+5A>G SNV
Germline
Chr2:214809407 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA16604050 rs_1057522270

4 SubmittersRCV000443036RCV001012253RCV002521750

NM_000465.4(BARD1):c.1205C>G (p.Ser402Ter) SNV
Germline
Chr2:214780669 Pathogenic/Likely pathogenic Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA16604101 rs_796666047

6 SubmittersRCV000432054RCV000685501RCV001805044

NM_000465.4(BARD1):c.-12G>T SNV
Germline
Chr2:214809581 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA16604110 rs_891171561

2 SubmittersRCV000444919RCV001180605

NM_000465.4(BARD1):c.1622C>A (p.Ser541Ter) SNV
Germline
Chr2:214752502 Pathogenic Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA16604377 rs_777937955

7 SubmittersRCV000438118RCV000582853RCV001388794

NM_000465.4(BARD1):c.1677+1G>C SNV
Germline
Chr2:214752446 Likely pathogenic Familial cancer of breast Criteria Provided
Multiple Submitters
No Conflicts
CA16610581 rs_1060501310

2 SubmittersRCV000474756

NM_000465.4(BARD1):c.1256A>G (p.Asn419Ser) SNV
Germline
Chr2:214780618 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2090321 rs_776723079

6 SubmittersRCV000465845RCV000776444RCV003235221RCV005639125

NM_000465.4(BARD1):c.520A>C (p.Ser174Arg) SNV
Germline
Chr2:214781354 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified
Criteria Provided
Conflicting Classifications
CA16610595 rs_1060501295

4 SubmittersRCV000466933RCV002339144RCV006690483

NM_000465.4(BARD1):c.173G>A (p.Arg58Lys) SNV
Germline
Chr2:214797103 Conflicting classifications of pathogenicity Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Criteria Provided
Conflicting Classifications
CA2090491 rs_774009993

7 SubmittersRCV000462863RCV000481113RCV000574056RCV003493575

NM_000465.4(BARD1):c.2051A>G (p.Lys684Arg) SNV
Germline
Chr2:214728959 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2090081 rs_780161956

4 SubmittersRCV000469773RCV000571857RCV004596188RCV006277838

NM_000465.4(BARD1):c.1904-5G>T SNV
Germline
Chr2:214730513 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
BARD1-related disorder
Criteria Provided
Conflicting Classifications
CA2090118 rs_376639978

5 SubmittersRCV000462946RCV000561248RCV003899961

NM_000465.4(BARD1):c.1032T>A (p.Ser344Arg) SNV
Germline
Chr2:214780842 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
BARD1-related cancer predisposition
Hereditary breast ovarian cancer syndrome
Criteria Provided
Conflicting Classifications
CA16610651 rs_1060501293

7 SubmittersRCV000474001RCV000565182RCV001284377RCV005600921RCV006261701

NM_000465.4(BARD1):c.808G>C (p.Glu270Gln) SNV
Germline
Chr2:214781066 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA16610656 rs_1060501288

3 SubmittersRCV000475332RCV000561864RCV006450189

NM_000465.4(BARD1):c.568G>C (p.Asp190His) SNV
Germline
Chr2:214781306 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified
Criteria Provided
Conflicting Classifications
CA16610659 rs_369561166

3 SubmittersRCV000468682RCV003298481RCV006690484

NM_000465.4(BARD1):c.1761G>C (p.Glu587Asp) SNV
Germline
Chr2:214745771 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified
Criteria Provided
Conflicting Classifications
CA16610686 rs_1060501284

5 SubmittersRCV000465548RCV000563027RCV005239023

NM_000465.4(BARD1):c.1395+4G>T SNV
Germline
Chr2:214769228 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA16610693 rs_1025329798

5 SubmittersRCV000475680RCV000572496RCV001836823

NM_000465.4(BARD1):c.1055T>C (p.Val352Ala) SNV
Germline
Chr2:214780819 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA2090344 rs_773918507

6 SubmittersRCV000466654RCV000562836RCV001564268RCV001824787

NM_000465.4(BARD1):c.977A>G (p.Asn326Ser) SNV
Germline
Chr2:214780897 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA2090354 rs_779960429

6 SubmittersRCV000456378RCV000575266RCV001030669RCV001800675RCV006268784

NM_000465.4(BARD1):c.965G>A (p.Arg322His) SNV
Germline
Chr2:214780909 Conflicting classifications of pathogenicity Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
BARD1-related disorder
BARD1-related cancer predisposition
Criteria Provided
Conflicting Classifications
CA2090356 rs_774251286

10 SubmittersRCV000476140RCV000483636RCV000565795RCV000780953RCV004740232RCV005600920

NM_000465.4(BARD1):c.2155A>G (p.Thr719Ala) SNV
Germline
Chr2:214728855 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Malignant tumor of breast
Criteria Provided
Conflicting Classifications
CA2090071 rs_771852699

8 SubmittersRCV000465002RCV000579794RCV000679337RCV001357531

NM_000465.4(BARD1):c.1759G>A (p.Glu587Lys) SNV
Germline
Chr2:214745773 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA2090176 rs_780820468

2 SubmittersRCV000468259RCV001012995

NM_000465.4(BARD1):c.1137A>C (p.Lys379Asn) SNV
Germline
Chr2:214780737 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA16610736 rs_1060501306

6 SubmittersRCV000475280RCV000568338

NM_000465.4(BARD1):c.1126T>G (p.Ser376Ala) SNV
Germline
Chr2:214780748 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA16610739 rs_1060501279

5 SubmittersRCV000462114RCV000562204

NM_000465.4(BARD1):c.933G>T (p.Lys311Asn) SNV
Germline
Chr2:214780941 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
BARD1-related disorder
Condition: not provided
Criteria Provided
Conflicting Classifications
CA16610744 rs_1060501297

5 SubmittersRCV000476251RCV000566726RCV003392276RCV006259936

NM_000465.4(BARD1):c.526C>T (p.Gln176Ter) SNV
Germline
Chr2:214781348 Pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA2090414 rs_776851287

2 SubmittersRCV000462626RCV002348302

NM_000465.4(BARD1):c.2271G>T (p.Lys757Asn) SNV
Germline
Chr2:214728739 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA16617423 rs_1064796724

5 SubmittersRCV000480775RCV000565929RCV000687560

NM_000465.4(BARD1):c.2233T>G (p.Tyr745Asp) SNV
Germline
Chr2:214728777 Conflicting classifications of pathogenicity Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA2090058 rs_771109295

6 SubmittersRCV000480804RCV000544437RCV000562199

NM_000465.4(BARD1):c.2226G>C (p.Leu742Phe) SNV
Germline
Chr2:214728784 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
Criteria Provided
Conflicting Classifications
CA16617424 rs_1064793606

5 SubmittersRCV000479587RCV000575647RCV000687817RCV001821393

NM_000465.4(BARD1):c.2153A>G (p.Asn718Ser) SNV
Germline
Chr2:214728857 Conflicting classifications of pathogenicity Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA2090072 rs_773166130

5 SubmittersRCV000483694RCV000541644RCV001184243

NM_000465.4(BARD1):c.1904-17T>A SNV
Germline
Chr2:214730525 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA16617432 rs_1064795448

3 SubmittersRCV000480749RCV000771168RCV002063785

NM_000465.4(BARD1):c.1792A>G (p.Thr598Ala) SNV
Germline
Chr2:214745740 Conflicting classifications of pathogenicity Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA2090172 rs_752628149

5 SubmittersRCV000487241RCV000635933RCV001013188

NM_000465.4(BARD1):c.1644G>A (p.Lys548=) SNV
Germline
Chr2:214752480 Conflicting classifications of pathogenicity Condition: not provided
not specified
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA16617434 rs_1064796411

3 SubmittersRCV000587041RCV000855610RCV004787791

NM_000465.4(BARD1):c.1393T>C (p.Leu465=) SNV
Germline
Chr2:214769234 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA2090272 rs_779653364

5 SubmittersRCV000479695RCV000772625RCV001419932

NM_000465.4(BARD1):c.1346A>G (p.Gln449Arg) SNV
Germline
Chr2:214769281 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Hereditary breast ovarian cancer syndrome
Criteria Provided
Conflicting Classifications
CA16617441 rs_916069875

5 SubmittersRCV000482558RCV001010976RCV001338090RCV005355966

NM_000465.4(BARD1):c.216-8T>C SNV
Germline
Chr2:214792453 Conflicting classifications of pathogenicity Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA16617456 rs_1064795148

4 SubmittersRCV000484406RCV001232938RCV003584629

NM_000465.4(BARD1):c.654G>A (p.Trp218Ter) SNV
Germline
Chr2:214781220 Pathogenic/Likely pathogenic Breast neoplasm
Familial cancer of breast
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA350456569 rs_1553622530

4 SubmittersRCV000504616RCV002527116RCV003488634

NM_000465.4(BARD1):c.79G>T (p.Glu27Ter) SNV
Germline
Chr2:214809491 Pathogenic/Likely pathogenic Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA350465133 rs_587780037

5 SubmittersRCV000508001RCV000574708RCV001865645

NM_000465.4(BARD1):c.2113A>T (p.Arg705Ter) SNV
Germline
Chr2:214728897 Likely pathogenic Condition: not provided
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA350450595 rs_1064795005

2 SubmittersRCV000522696RCV005091214

NM_000465.4(BARD1):c.2002-1G>A SNV
Germline
Chr2:214729009 Conflicting classifications of pathogenicity Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA2090090 rs_762601855

5 SubmittersRCV000523802RCV000810463RCV001188789

NM_000465.4(BARD1):c.363A>G (p.Ser121=) SNV
Germline
Chr2:214792298 Conflicting classifications of pathogenicity Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA431141327 rs_1553624704

4 SubmittersRCV000522281RCV000818097RCV002456002

NM_000465.4(BARD1):c.2111G>A (p.Ser704Asn) SNV
Germline
Chr2:214728899 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
BARD1-related cancer predisposition
Criteria Provided
Conflicting Classifications
CA2090077 rs_764477334

3 SubmittersRCV000547710RCV002420402RCV005357562

NM_000465.4(BARD1):c.1925G>C (p.Arg642Thr) SNV
Germline
Chr2:214730487 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA350451274 rs_1420797541

3 SubmittersRCV000531140RCV002413485RCV003441923

NM_000465.4(BARD1):c.1904-3C>G SNV
Germline
Chr2:214730511 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA539535344 rs_876660360

6 SubmittersRCV000552715RCV000570678RCV003151785

NM_000465.4(BARD1):c.1767A>G (p.Ala589=) SNV
Germline
Chr2:214745765 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified
Criteria Provided
Conflicting Classifications
CA431145879 rs_1553615121

4 SubmittersRCV000536019RCV002404407RCV005231035

NM_000465.4(BARD1):c.1219G>A (p.Val407Met) SNV
Germline
Chr2:214780655 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA350453682 rs_1553622168

2 SubmittersRCV000534021RCV002367811

NM_000465.4(BARD1):c.1118G>A (p.Gly373Asp) SNV
Germline
Chr2:214780756 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA64788116 rs_568305044

3 SubmittersRCV000532171RCV002225649RCV004023835

NM_000465.4(BARD1):c.680G>A (p.Gly227Asp) SNV
Germline
Chr2:214781194 Conflicting classifications of pathogenicity Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA350456441 rs_1553622515

3 SubmittersRCV000555734RCV004772961RCV006662887

NM_000465.4(BARD1):c.665C>T (p.Ala222Val) SNV
Germline
Chr2:214781209 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA64788815 rs_142086060

7 SubmittersRCV000538719RCV000568474RCV000588795

NM_000465.4(BARD1):c.45C>A (p.Arg15=) SNV
Germline
Chr2:214809525 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA64810433 rs_786201402

5 SubmittersRCV000584097RCV001141615

NM_000465.4(BARD1):c.2001+1G>T SNV
Germline
Chr2:214730410 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA2090109 rs_768490891

2 SubmittersRCV006717085RCV000545124

NM_000465.4(BARD1):c.1568+3A>G SNV
Germline
Chr2:214767479 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA658657231 rs_1280734884

4 SubmittersRCV000548568RCV000571992RCV001755819

NM_000465.4(BARD1):c.1255A>G (p.Asn419Asp) SNV
Germline
Chr2:214780619 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA64787909 rs_199834790

3 SubmittersRCV000559219RCV002420401RCV005416364

NM_000465.4(BARD1):c.1162A>C (p.Ile388Leu) SNV
Germline
Chr2:214780712 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA350453915 rs_1553622215

3 SubmittersRCV000556490RCV002225650RCV002358482

NM_000465.4(BARD1):c.824T>A (p.Leu275Ter) SNV
Germline
Chr2:214781050 Pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA350455432 rs_765629130

2 SubmittersRCV000547826RCV002431572

NM_000465.4(BARD1):c.726C>T (p.Phe242=) SNV
Germline
Chr2:214781148 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA431390840 rs_876659277

3 SubmittersRCV000532699RCV002384083

NM_000465.4(BARD1):c.158G>A (p.Cys53Tyr) SNV
Germline
Chr2:214809412 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA2090506 rs_747582517

3 SubmittersRCV000526941RCV004689783RCV004601199

NM_000465.4(BARD1):c.2227T>C (p.Cys743Arg) SNV
Germline
Chr2:214728783 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA350450103 rs_1553612082

2 SubmittersRCV000560460RCV000573841

NM_000465.4(BARD1):c.1161C>A (p.Phe387Leu) SNV
Germline
Chr2:214780713 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2090332 rs_553790960

5 SubmittersRCV000546232RCV001805155RCV003488669

NM_000465.4(BARD1):c.975C>A (p.His325Gln) SNV
Germline
Chr2:214780899 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA350454602 rs_876660202

2 SubmittersRCV000555133RCV005298517

NM_000465.4(BARD1):c.637G>A (p.Glu213Lys) SNV
Germline
Chr2:214781237 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA350456630 rs_1553622554

3 SubmittersRCV000526291RCV002358483

NM_000465.4(BARD1):c.1877A>T (p.Asn626Ile) SNV
Germline
Chr2:214745093 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA350452102 rs_587781443

2 SubmittersRCV000538708RCV004948404

NM_000465.4(BARD1):c.1810G>A (p.Val604Ile) SNV
Germline
Chr2:214745722 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA350452480 rs_1553615089

4 SubmittersRCV000535091RCV004948403RCV005638504RCV006273867

NM_000465.4(BARD1):c.1802A>G (p.Asp601Gly) SNV
Germline
Chr2:214745730 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2090170 rs_767765131

7 SubmittersRCV000524805RCV000774675RCV003318588

NM_000465.4(BARD1):c.1508A>G (p.Lys503Arg) SNV
Germline
Chr2:214767542 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary cancer
Criteria Provided
Conflicting Classifications
CA2090246 rs_775002804

5 SubmittersRCV000545802RCV000568989RCV002285356RCV004701621

NM_000465.4(BARD1):c.1487C>G (p.Ser496Ter) SNV
Germline
Chr2:214767563 Pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA350448401 rs_1405646805

4 SubmittersRCV000535461RCV003362831

NM_000465.4(BARD1):c.1407C>A (p.Cys469Ter) SNV
Germline
Chr2:214767643 Pathogenic/Likely pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA350448807 rs_1553619349

4 SubmittersRCV000532723RCV000565469

NM_000465.4(BARD1):c.1182A>G (p.Thr394=) SNV
Germline
Chr2:214780692 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA2090327 rs_780580712

4 SubmittersRCV000545297RCV001805156

NM_000465.4(BARD1):c.1147A>T (p.Met383Leu) SNV
Germline
Chr2:214780727 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2090337 rs_761516178

5 SubmittersRCV000552814RCV000570112RCV004719857

NM_000465.4(BARD1):c.1042G>A (p.Val348Ile) SNV
Germline
Chr2:214780832 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA350454199 rs_1315898207

3 SubmittersRCV000550101RCV001009785RCV001775853

NM_000465.4(BARD1):c.1016G>C (p.Ser339Thr) SNV
Germline
Chr2:214780858 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA2090347 rs_201261729

3 SubmittersRCV000539750RCV000776214

NM_000465.4(BARD1):c.463A>T (p.Arg155Ter) SNV
Germline
Chr2:214781411 Pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA350457639 rs_1553622669

3 SubmittersRCV000546594RCV002330850

NM_000465.4(BARD1):c.54C>A (p.Asn18Lys) SNV
Germline
Chr2:214809516 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA350465250 rs_587780032

6 SubmittersRCV000559915RCV000571385RCV001755820

NM_000465.4(BARD1):c.2304G>A (p.Met768Ile) SNV
Germline
Chr2:214728706 Conflicting classifications of pathogenicity Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA64792574 rs_730881409

4 SubmittersRCV001366906RCV002473063RCV000574166

NM_000465.4(BARD1):c.1989C>T (p.Asn663=) SNV
Germline
Chr2:214730423 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Criteria Provided
Conflicting Classifications
CA431139087 rs_587782767

6 SubmittersRCV000567070RCV001429305RCV003322788

NM_000465.4(BARD1):c.1905G>A (p.Trp635Ter) SNV
Germline
Chr2:214730507 Pathogenic/Likely pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
BARD1-related cancer predisposition
Criteria Provided
Multiple Submitters
No Conflicts
CA64793854 rs_773223671

7 SubmittersRCV000635845RCV000561015RCV001764637RCV005357629

NM_000465.4(BARD1):c.1886G>A (p.Trp629Ter) SNV
Germline
Chr2:214745084 Pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA2090145 rs_747446711

2 SubmittersRCV000562655RCV006633927

NM_000465.4(BARD1):c.1810+2T>G SNV
Germline
Chr2:214745720 Likely pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Criteria Provided
Multiple Submitters
No Conflicts
CA350452471 rs_1234033325

5 SubmittersRCV000635609RCV000569389RCV001270957

NM_000465.4(BARD1):c.2299G>T (p.Val767Leu) SNV
Germline
Chr2:214728711 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA350449804 rs_1434753563

6 SubmittersRCV000570902RCV001215604

NM_000465.4(BARD1):c.2059C>T (p.Pro687Ser) SNV
Germline
Chr2:214728951 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA350450701 rs_1553612216

2 SubmittersRCV000562537RCV001363654

NM_000465.4(BARD1):c.2002-1G>C SNV
Germline
Chr2:214729009 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA350450833 rs_762601855

2 SubmittersRCV000561892RCV003335476

NM_000465.4(BARD1):c.1843C>T (p.Gln615Ter) SNV
Germline
Chr2:214745127 Pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Gastric cancer
Criteria Provided
Multiple Submitters
No Conflicts
CA350452236 rs_751710099

4 SubmittersRCV000564576RCV000804746RCV003159961

NM_000465.4(BARD1):c.1744C>T (p.Gln582Ter) SNV
Germline
Chr2:214745788 Pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA350452992 rs_1553615135

3 SubmittersRCV000574145RCV001386467

NM_000465.4(BARD1):c.1924A>G (p.Arg642Gly) SNV
Germline
Chr2:214730488 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA2090114 rs_765487816

4 SubmittersRCV000569437RCV003114682

NM_000465.4(BARD1):c.1838C>A (p.Ala613Glu) SNV
Germline
Chr2:214745132 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
BARD1-related disorder
Criteria Provided
Conflicting Classifications
CA2090152 rs_146629794

6 SubmittersRCV000568292RCV000635905RCV003313105RCV004740334

NM_000465.4(BARD1):c.1568+2T>C SNV
Germline
Chr2:214767480 Likely pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA350448058 rs_1553619196

2 SubmittersRCV000569988RCV003335516

NM_000465.4(BARD1):c.1385G>A (p.Trp462Ter) SNV
Germline
Chr2:214769242 Pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA350450121 rs_1213894295

3 SubmittersRCV000574788RCV001865702

NM_000465.4(BARD1):c.1345C>T (p.Gln449Ter) SNV
Germline
Chr2:214769282 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Gastric cancer
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA350450413 rs_1553619721

5 SubmittersRCV000562658RCV001030609RCV003159956RCV003335479

NM_000465.4(BARD1):c.2001+1G>C SNV
Germline
Chr2:214730410 Likely pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA350451081 rs_768490891

8 SubmittersRCV000571298RCV000706252RCV003488699

NM_000465.4(BARD1):c.1314+1G>A SNV
Germline
Chr2:214780559 Pathogenic/Likely pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
BARD1-related cancer predisposition
Hereditary breast ovarian cancer syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA2090307 rs_753785671

9 SubmittersRCV000635897RCV000566497RCV003488698RCV005600984RCV005056193

NM_000465.4(BARD1):c.1282G>T (p.Gly428Ter) SNV
Germline
Chr2:214780592 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Multiple Submitters
No Conflicts
CA350453383 rs_1553622106

2 SubmittersRCV000574890

NM_000465.4(BARD1):c.1822G>A (p.Val608Ile) SNV
Germline
Chr2:214745148 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA2090154 rs_778987552

3 SubmittersRCV000565423RCV002526768

NM_000465.4(BARD1):c.1912G>A (p.Ala638Thr) SNV
Germline
Chr2:214730500 Conflicting classifications of pathogenicity Familial cancer of breast
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Ovarian cancer
Criteria Provided
Conflicting Classifications
CA2090116 rs_756136465

7 SubmittersRCV000635747RCV000779830RCV000568310RCV002275108RCV003153732

NM_000465.4(BARD1):c.1847G>A (p.Ser616Asn) SNV
Germline
Chr2:214745123 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA350452222 rs_1475259063

3 SubmittersRCV000575244RCV000635931

NM_000465.4(BARD1):c.1810+3G>T SNV
Germline
Chr2:214745719 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA658657221 rs_1310430913

3 SubmittersRCV000569239RCV003148794RCV002528103

NM_000465.4(BARD1):c.1204T>C (p.Ser402Pro) SNV
Germline
Chr2:214780670 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA350453739 rs_1375796276

3 SubmittersRCV000570007RCV001337339

NM_000465.4(BARD1):c.1314+4G>A SNV
Germline
Chr2:214780556 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA658657236 rs_1553622081

2 SubmittersRCV000700308RCV000574866

NM_000465.4(BARD1):c.1073C>T (p.Pro358Leu) SNV
Germline
Chr2:214780801 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA350454111 rs_1553622261

3 SubmittersRCV001764636RCV000568451RCV001236137

NM_000465.4(BARD1):c.653G>A (p.Trp218Ter) SNV
Germline
Chr2:214781221 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA350456572 rs_1553622534

5 SubmittersRCV000571905RCV001858245

NM_000465.4(BARD1):c.1338C>G (p.Tyr446Ter) SNV
Germline
Chr2:214769289 Pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA350450445 rs_761702998

3 SubmittersRCV000561666RCV001060889

NM_000465.4(BARD1):c.616C>A (p.Gln206Lys) SNV
Germline
Chr2:214781258 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Criteria Provided
Conflicting Classifications
CA350456690 rs_1453894904

4 SubmittersRCV000573702RCV001065603RCV001591334

NM_000465.4(BARD1):c.1104C>G (p.Cys368Trp) SNV
Germline
Chr2:214780770 Conflicting classifications of pathogenicity Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA2090338 rs_371147849

7 SubmittersRCV000635777RCV000758761RCV000570710

NM_000465.4(BARD1):c.521G>A (p.Ser174Asn) SNV
Germline
Chr2:214781353 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA350457474 rs_1277839212

3 SubmittersRCV000569317RCV000635672

NM_000465.4(BARD1):c.517G>A (p.Ala173Thr) SNV
Germline
Chr2:214781357 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA350457482 rs_1553622642

2 SubmittersRCV000567959RCV001365347

NM_000465.4(BARD1):c.1083A>C (p.Glu361Asp) SNV
Germline
Chr2:214780791 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2090340 rs_778116528

3 SubmittersRCV000569236RCV001858249RCV005000275

NM_000465.4(BARD1):c.986C>G (p.Ser329Cys) SNV
Germline
Chr2:214780888 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Malignant tumor of breast
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA64788355 rs_905626929

9 SubmittersRCV000566662RCV000694822RCV001357677RCV002476211RCV006690758

NM_000465.4(BARD1):c.931A>G (p.Lys311Glu) SNV
Germline
Chr2:214780943 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA350454985 rs_1553622337

2 SubmittersRCV000562059RCV003500556

NM_000465.4(BARD1):c.1057C>T (p.Pro353Ser) SNV
Germline
Chr2:214780817 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA350454142 rs_1553622277

2 SubmittersRCV000690479RCV000562704

NM_000465.4(BARD1):c.469G>A (p.Val157Ile) SNV
Germline
Chr2:214781405 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA350457604 rs_1553622662

2 SubmittersRCV000824560RCV000567056

NM_000465.4(BARD1):c.884A>G (p.Asn295Ser) SNV
Germline
Chr2:214780990 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA350455152 rs_1448645093

2 SubmittersRCV000573008RCV000697402

NM_000465.4(BARD1):c.808G>T (p.Glu270Ter) SNV
Germline
Chr2:214781066 Pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA350455564 rs_1060501288

4 SubmittersRCV000796390RCV000565570

NM_000465.4(BARD1):c.310A>G (p.Met104Val) SNV
Germline
Chr2:214792351 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Criteria Provided
Conflicting Classifications
CA350460951 rs_1401565860

4 SubmittersRCV000569582RCV000795148RCV005241379

NM_000465.4(BARD1):c.217A>G (p.Asn73Asp) SNV
Germline
Chr2:214792444 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA350461340 rs_1553624840

2 SubmittersRCV000566478RCV002530248

NM_000465.4(BARD1):c.216-3A>C SNV
Germline
Chr2:214792448 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Criteria Provided
Conflicting Classifications
CA539837398 rs_1329481396

4 SubmittersRCV000571467RCV001371454RCV002476244

NM_000465.4(BARD1):c.159T>G (p.Cys53Trp) SNV
Germline
Chr2:214797117 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA350462334 rs_201708813

3 SubmittersRCV000572806RCV001257154

NM_000465.4(BARD1):c.798G>C (p.Leu266Phe) SNV
Germline
Chr2:214781076 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Criteria Provided
Conflicting Classifications
CA350455633 rs_1553622436

6 SubmittersRCV000695962RCV000575594RCV002465715RCV005000232

NM_000465.4(BARD1):c.420G>T (p.Lys140Asn) SNV
Germline
Chr2:214781454 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA2090426 rs_758749603

3 SubmittersRCV001238638RCV000574944

NM_000465.4(BARD1):c.389A>C (p.Lys130Thr) SNV
Germline
Chr2:214781485 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
Criteria Provided
Conflicting Classifications
CA350458201 rs_1174079177

5 SubmittersRCV000563923RCV001063014RCV002265803

NM_000465.4(BARD1):c.364G>A (p.Asp122Asn) SNV
Germline
Chr2:214792297 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA350460720 rs_1553624702

2 SubmittersRCV000574143RCV001858248

NM_000465.4(BARD1):c.1939C>T (p.Gln647Ter) SNV
Unknown
Chr2:214730473 Pathogenic Familial cancer of breast Criteria Provided
Single Submitter
CA350451210 rs_1350570988

2 SubmittersRCV000576422

NM_000465.4(BARD1):c.2087C>G (p.Thr696Ser) SNV
Germline
Chr2:214728923 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome Criteria Provided
Conflicting Classifications
CA350450645 rs_1289051833

2 SubmittersRCV000580240

NM_000465.4(BARD1):c.211T>A (p.Cys71Ser) SNV
Germline
Chr2:214797065 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA350462140 rs_1060501308

5 SubmittersRCV000580172RCV001284527RCV001853863

NM_000465.4(BARD1):c.2143C>T (p.Gln715Ter) SNV
Germline
Chr2:214728867 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA350450495 rs_1553612164

5 SubmittersRCV000581178RCV003336065RCV003320707

NM_000465.4(BARD1):c.2151C>T (p.Ile717=) SNV
Germline
Chr2:214728859 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Criteria Provided
Conflicting Classifications
CA431393473 rs_1553612158

3 SubmittersRCV000582389RCV004787970RCV004773033

NM_000465.4(BARD1):c.1205C>A (p.Ser402Ter) SNV
Germline
Chr2:214780669 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA64788006 rs_796666047

7 SubmittersRCV000584178RCV000780952RCV001042194

NM_000465.4(BARD1):c.1156G>T (p.Glu386Ter) SNV
Germline
Chr2:214780718 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Gastric cancer
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA350453942 rs_1553622218

5 SubmittersRCV000582795RCV003159979RCV002529209

NM_000465.4(BARD1):c.373G>T (p.Glu125Ter) SNV
Germline
Chr2:214781501 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter
CA350458359 rs_1553622720

1 SubmittersRCV000582772

NM_000465.4(BARD1):c.2196C>G (p.Phe732Leu) SNV
Germline
Chr2:214728814 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
BARD1-related disorder
Criteria Provided
Conflicting Classifications
CA350450272 rs_1553612117

7 SubmittersRCV000589232RCV000772491RCV001214902RCV004586811RCV004740346

NM_000465.4(BARD1):c.2323C>T (p.Leu775Phe) SNV
Germline
Chr2:214728687 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA350449663 rs_1553612005

3 SubmittersRCV000635610RCV001175701

NM_000465.4(BARD1):c.2001+1G>A SNV
Germline
Chr2:214730410 Likely pathogenic Familial cancer of breast
Condition: not provided
BARD1-related cancer predisposition
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA350451082 rs_768490891

5 SubmittersRCV000635869RCV004773053RCV005601058RCV006367172

NM_000465.4(BARD1):c.1300A>T (p.Ile434Phe) SNV
Germline
Chr2:214780574 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA2090311 rs_758049210

5 SubmittersRCV000635821RCV000774682

NM_000465.4(BARD1):c.934A>T (p.Lys312Ter) SNV
Germline
Chr2:214780940 Pathogenic Familial cancer of breast Criteria Provided
Single Submitter
CA350454958 rs_1060501291

1 SubmittersRCV000635938

NM_000465.4(BARD1):c.400A>C (p.Asn134His) SNV
Germline
Chr2:214781474 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA350458077 rs_876660852

2 SubmittersRCV000635874RCV002377379

NM_000465.4(BARD1):c.163A>G (p.Asn55Asp) SNV
Germline
Chr2:214797113 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA350462329 rs_1039799564

3 SubmittersRCV000635695RCV002388038RCV005000413

NM_000465.4(BARD1):c.1168C>A (p.Leu390Ile) SNV
Germline
Chr2:214780706 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA350453886 rs_774439137

3 SubmittersRCV000635932RCV004948499

NM_000465.4(BARD1):c.158+1G>T SNV
Germline
Chr2:214809411 Likely pathogenic Familial cancer of breast
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA350464686 rs_1553628351

5 SubmittersRCV000635701RCV001569395

NM_000465.4(BARD1):c.632T>G (p.Leu211Ter) SNV
Germline
Chr2:214781242 Pathogenic/Likely pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA350456640 rs_762171436

4 SubmittersRCV000635947RCV002360543

NM_000465.4(BARD1):c.632T>A (p.Leu211Ter) SNV
Germline
Chr2:214781242 Pathogenic/Likely pathogenic Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA350456639 rs_762171436

7 SubmittersRCV000657689RCV001025144RCV001387044

NM_000465.4(BARD1):c.2001+3A>G SNV
Germline
Chr2:214730408 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Condition: not provided
Criteria Provided
Conflicting Classifications
CA658821564 rs_1553612461

8 SubmittersRCV000662438RCV001177935RCV001357246RCV006260962

NM_000465.4(BARD1):c.1111A>T (p.Lys371Ter) SNV
Germline
Chr2:214780763 Pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA350454036 rs_1364256214

3 SubmittersRCV000704468RCV001017353

NM_000465.4(BARD1):c.215+2T>C SNV
Germline
Chr2:214797059 Likely pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA350462108 rs_1559441760

6 SubmittersRCV000698430RCV002259005RCV003156285

NM_000465.4(BARD1):c.159-1G>A SNV
Germline
Chr2:214797118 Pathogenic/Likely pathogenic Familial cancer of breast
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA350462337 rs_879254139

4 SubmittersRCV000702035RCV000780948RCV004026577

NM_000465.4(BARD1):c.1569-7T>G SNV
Germline
Chr2:214752562 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary breast ovarian cancer syndrome
Criteria Provided
Conflicting Classifications
CA891842522 rs_1559395026

3 SubmittersRCV000703040RCV003482152

NM_000465.4(BARD1):c.1240A>G (p.Met414Val) SNV
Germline
Chr2:214780634 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA64787917 rs_759601398

3 SubmittersRCV000704930RCV001010520RCV006261009

NM_000465.4(BARD1):c.779T>G (p.Leu260Ter) SNV
Germline
Chr2:214781095 Pathogenic Familial cancer of breast Criteria Provided
Single Submitter
CA350455819 rs_1559425010

1 SubmittersRCV000693671

NM_000465.4(BARD1):c.616C>T (p.Gln206Ter) SNV
Germline
Chr2:214781258 Pathogenic Familial cancer of breast Criteria Provided
Single Submitter
CA350456686 rs_1453894904

1 SubmittersRCV000688795

NM_000465.4(BARD1):c.86A>C (p.Asp29Ala) SNV
Germline
Chr2:214809484 Conflicting classifications of pathogenicity Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA2090519 rs_777491507

6 SubmittersRCV001283884RCV000695298RCV000774688

NM_000465.4(BARD1):c.1904-10T>C SNV
Germline
Chr2:214730518 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA64793866 rs_768259863

3 SubmittersRCV000706888RCV001181311

NM_000465.4(BARD1):c.1396-5A>G SNV
Germline
Chr2:214767659 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA891842524 rs_1559410251

3 SubmittersRCV000687169RCV000772362

NM_000465.4(BARD1):c.365-1G>T SNV
Germline
Chr2:214781510 Likely pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA350458428 rs_1559426428

2 SubmittersRCV000694698RCV002458250

NM_000465.4(BARD1):c.1069A>G (p.Ile357Val) SNV
Germline
Chr2:214780805 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA350454118 rs_1559424056

3 SubmittersRCV000708663RCV005092053

NM_000465.4(BARD1):c.2106C>G (p.Ile702Met) SNV
Germline
Chr2:214728904 Conflicting classifications of pathogenicity Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA350450610 rs_1559372357

5 SubmittersRCV000714523RCV002289994RCV002422624

NM_000465.4(BARD1):c.364+7A>C SNV
Germline
Chr2:214792290 Conflicting classifications of pathogenicity Condition: not provided
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA913189738 rs_1475396127

3 SubmittersRCV000758771RCV001506326

NM_000465.4(BARD1):c.2184T>C (p.Ser728=) SNV
Germline
Chr2:214728826 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA431392644 rs_1559372027

4 SubmittersRCV000771406RCV004997272RCV003768322

NM_000465.4(BARD1):c.2105T>C (p.Ile702Thr) SNV
Germline
Chr2:214728905 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2090078 rs_752114855

5 SubmittersRCV000774621RCV001248631RCV004777863

NM_000465.4(BARD1):c.1887G>A (p.Trp629Ter) SNV
Germline
Chr2:214745083 Pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA350452082 rs_878854003

4 SubmittersRCV000775105RCV000800395

NM_000465.4(BARD1):c.1852T>A (p.Leu618Met) SNV
Germline
Chr2:214745118 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA350452210 rs_1559386134

3 SubmittersRCV000773821RCV000791905

NM_000465.4(BARD1):c.1465A>G (p.Thr489Ala) SNV
Germline
Chr2:214767585 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome Criteria Provided
Conflicting Classifications
CA350448488 rs_1559409974

2 SubmittersRCV000772558

NM_000465.4(BARD1):c.956A>G (p.Asn319Ser) SNV
Germline
Chr2:214780918 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome Criteria Provided
Conflicting Classifications
CA350454748 rs_996675923

2 SubmittersRCV000772705

NM_000465.4(BARD1):c.949G>C (p.Glu317Gln) SNV
Germline
Chr2:214780925 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA350454819 rs_1559424451

3 SubmittersRCV000772377RCV000801622

NM_000465.4(BARD1):c.904A>T (p.Lys302Ter) SNV
Germline
Chr2:214780970 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter
CA350455111 rs_1559424634

1 SubmittersRCV000777024

NM_000465.4(BARD1):c.858A>G (p.Ile286Met) SNV
Germline
Chr2:214781016 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA2090372 rs_772845446

3 SubmittersRCV000774685RCV000807295

NM_000465.4(BARD1):c.748T>C (p.Ser250Pro) SNV
Germline
Chr2:214781126 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2090385 rs_570022823

4 SubmittersRCV000774686RCV000796687RCV001775994

NM_000465.4(BARD1):c.687T>A (p.Phe229Leu) SNV
Germline
Chr2:214781187 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome Criteria Provided
Conflicting Classifications
CA350456410 rs_756803590

2 SubmittersRCV000772791

NM_000465.4(BARD1):c.401A>C (p.Asn134Thr) SNV
Germline
Chr2:214781473 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA350458075 rs_1559426297

3 SubmittersRCV000771352RCV001060673

NM_000465.4(BARD1):c.389A>G (p.Lys130Arg) SNV
Germline
Chr2:214781485 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Criteria Provided
Conflicting Classifications
CA350458199 rs_1174079177

4 SubmittersRCV000775962RCV001230357RCV004997296

NM_000465.4(BARD1):c.272G>A (p.Trp91Ter) SNV
Germline
Chr2:214792389 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA350461125 rs_1559437094

5 SubmittersRCV000773687RCV001856063

NM_000465.4(BARD1):c.247T>C (p.Cys83Arg) SNV
Germline
Chr2:214792414 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA350461233 rs_1559437198

4 SubmittersRCV000772785RCV001257341

NM_000465.4(BARD1):c.244G>C (p.Gly82Arg) SNV
Germline
Chr2:214792417 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA350461243 rs_1559437226

3 SubmittersRCV000775836RCV001869106

NM_000465.4(BARD1):c.216-16T>A SNV
Germline
Chr2:214792461 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA2090472 rs_763760515

2 SubmittersRCV000774687RCV002068513

NM_000465.4(BARD1):c.215+9T>G SNV
Germline
Chr2:214797052 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA913188049 rs_1559441723

3 SubmittersRCV000774530RCV001218258

NM_000465.4(BARD1):c.1314G>T (p.Lys438Asn) SNV
Somatic
Chr2:214780560 Likely pathogenic Ovarian neoplasm
Familial cancer of breast
Criteria Provided
Single Submitter
CA350453156 rs_1559423185

2 SubmittersRCV000785391RCV006736357

NM_000465.4(BARD1):c.1790A>G (p.Tyr597Cys) SNV
Germline
Chr2:214745742 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA2090173 rs_757953605

2 SubmittersRCV000791826RCV001013167

NM_000465.4(BARD1):c.1519G>T (p.Val507Leu) SNV
Germline
Chr2:214767531 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
BARD1-related cancer predisposition
Criteria Provided
Conflicting Classifications
CA350448273 rs_2070094

5 SubmittersRCV000796413RCV001011958RCV005359536

NM_000465.4(BARD1):c.1338C>A (p.Tyr446Ter) SNV
Germline
Chr2:214769289 Pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA2090283 rs_761702998

4 SubmittersRCV000817773RCV002381841

NM_000465.4(BARD1):c.1196T>G (p.Leu399Ter) SNV
Germline
Chr2:214780678 Pathogenic/Likely pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA350453780 rs_1172609046

5 SubmittersRCV000794208RCV001181191RCV000985347

NM_000465.4(BARD1):c.1192A>G (p.Thr398Ala) SNV
Germline
Chr2:214780682 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA350453800 rs_1297661047

3 SubmittersRCV000799152RCV001179161

NM_000465.4(BARD1):c.745A>G (p.Ile249Val) SNV
Germline
Chr2:214781129 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2090388 rs_745462573

3 SubmittersRCV000805684RCV002381771RCV004721622

NM_000465.4(BARD1):c.664G>A (p.Ala222Thr) SNV
Germline
Chr2:214781210 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA350456520 rs_1574820102

2 SubmittersRCV000807753RCV002360988

NM_000465.4(BARD1):c.379A>G (p.Lys127Glu) SNV
Germline
Chr2:214781495 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA350458312 rs_1574821802

2 SubmittersRCV000813748RCV006666344

NM_000465.4(BARD1):c.377A>C (p.Asp126Ala) SNV
Germline
Chr2:214781497 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA350458331 rs_1574821822

2 SubmittersRCV000791838RCV006663292

NM_000465.4(BARD1):c.98C>T (p.Ala33Val) SNV
Germline
Chr2:214809472 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified
Criteria Provided
Conflicting Classifications
CA350465041 rs_1559454402

4 SubmittersRCV000802933RCV002386435RCV003226396

NM_000465.4(BARD1):c.1903+2T>C SNV
Germline
Chr2:214745065 Likely pathogenic Familial cancer of breast
Breast carcinoma
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA350452039 rs_1574737047

4 SubmittersRCV000823921RCV001568338RCV005520359

NM_000465.4(BARD1):c.2001+10T>C SNV
Germline
Chr2:214730401 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2090105 rs_769194998

4 SubmittersRCV001188788RCV001411340RCV006261168

NM_000465.4(BARD1):c.364+7A>G SNV
Germline
Chr2:214792290 Conflicting classifications of pathogenicity Familial cancer of breast
Condition: not provided
Criteria Provided
Conflicting Classifications
CA764553006 rs_1475396127

3 SubmittersRCV001464483RCV004997514

NM_000465.4(BARD1):c.867A>G (p.Pro289=) SNV
Germline
Chr2:214781007 Conflicting classifications of pathogenicity Condition: not provided
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA431391832 rs_1574818859

2 SubmittersRCV000985354RCV002549646

NM_000465.4(BARD1):c.363A>T (p.Ser121=) SNV
Germline
Chr2:214792298 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA431141325 rs_1553624704

3 SubmittersRCV000985353RCV001020779RCV002549645

NM_000465.4(BARD1):c.1810+3G>A SNV
Germline
Chr2:214745719 Conflicting classifications of pathogenicity Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA764567776 rs_1310430913

5 SubmittersRCV000985350RCV001035011RCV001013208

NM_000465.4(BARD1):c.2293G>A (p.Asp765Asn) SNV
Germline
Chr2:214728717 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA350449844 rs_1574701742

3 SubmittersRCV001015043RCV003607375

NM_000465.4(BARD1):c.2242G>T (p.Glu748Ter) SNV
Germline
Chr2:214728768 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Malignant tumor of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA350450017 rs_879253880

5 SubmittersRCV001014907RCV001221656RCV001844259

NM_000465.4(BARD1):c.2074A>C (p.Ile692Leu) SNV
Germline
Chr2:214728936 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA350450670 rs_1574703604

2 SubmittersRCV001014332RCV001231015

NM_000465.4(BARD1):c.2050A>T (p.Lys684Ter) SNV
Germline
Chr2:214728960 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA350450722 rs_1559372578

4 SubmittersRCV001014202RCV001037336

NM_000465.4(BARD1):c.1546T>C (p.Tyr516His) SNV
Germline
Chr2:214767504 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA350448159 rs_1574788120

2 SubmittersRCV001012051RCV001860690

NM_000465.4(BARD1):c.1263T>C (p.Ala421=) SNV
Germline
Chr2:214780611 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA431391190 rs_1574816201

2 SubmittersRCV001010641RCV001284381

NM_000465.4(BARD1):c.1259T>C (p.Met420Thr) SNV
Germline
Chr2:214780615 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
BARD1-related cancer predisposition
Criteria Provided
Conflicting Classifications
CA64787878 rs_786203217

5 SubmittersRCV001010618RCV001546324RCV001860642RCV005359748

NM_000465.4(BARD1):c.1147A>G (p.Met383Val) SNV
Germline
Chr2:214780727 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA2090336 rs_761516178

3 SubmittersRCV001017464RCV001039125

NM_000465.4(BARD1):c.1054G>A (p.Val352Met) SNV
Germline
Chr2:214780820 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA64788270 rs_587782475

2 SubmittersRCV001017153RCV005093153

NM_000465.4(BARD1):c.994A>G (p.Ile332Val) SNV
Germline
Chr2:214780880 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA2090351 rs_543606863

2 SubmittersRCV001019922RCV001227085

NM_000465.4(BARD1):c.800C>T (p.Thr267Ile) SNV
Germline
Chr2:214781074 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA350455620 rs_1338972046

4 SubmittersRCV001027057RCV001873425

NM_000465.4(BARD1):c.736C>A (p.Pro246Thr) SNV
Germline
Chr2:214781138 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA64788672 rs_927730167

4 SubmittersRCV001026332RCV001242797

NM_000465.4(BARD1):c.700G>T (p.Glu234Ter) SNV
Germline
Chr2:214781174 Pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA350456348 rs_905491643

3 SubmittersRCV001025924RCV003336270

NM_000465.4(BARD1):c.647A>G (p.Gln216Arg) SNV
Germline
Chr2:214781227 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA350456605 rs_1178751431

2 SubmittersRCV001025312RCV002298846

NM_000465.4(BARD1):c.514G>A (p.Asp172Asn) SNV
Germline
Chr2:214781360 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA2090416 rs_759732945

3 SubmittersRCV001023617RCV001091194RCV001245327

NM_000465.4(BARD1):c.438G>A (p.Trp146Ter) SNV
Germline
Chr2:214781436 Pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA350457783 rs_587781806

4 SubmittersRCV001022405RCV001862215

NM_000465.4(BARD1):c.328A>T (p.Lys110Ter) SNV
Germline
Chr2:214792333 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA350460865 rs_1574839460

2 SubmittersRCV001019704RCV003461381

NM_000465.4(BARD1):c.245G>C (p.Gly82Ala) SNV
Germline
Chr2:214792416 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA350461237 rs_886055600

3 SubmittersRCV001015610RCV005093124

NM_000465.4(BARD1):c.51G>T (p.Gly17=) SNV
Germline
Chr2:214809519 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA431148649 rs_864622419

3 SubmittersRCV001036652RCV001023714

NM_000465.4(BARD1):c.1903+2T>A SNV
Germline
Chr2:214745065 Likely pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter
CA350452040 rs_1574737047

1 SubmittersRCV001013628

NM_000465.4(BARD1):c.1903+1G>A SNV
Germline
Chr2:214745066 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA350452042 rs_876660237

6 SubmittersRCV001013627RCV002511014RCV003336240

NM_000465.4(BARD1):c.1569-1G>A SNV
Germline
Chr2:214752556 Likely pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA350455076 rs_1574756672

3 SubmittersRCV001012177RCV002549361

NM_000465.4(BARD1):c.1315-2A>G SNV
Germline
Chr2:214769314 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
Criteria Provided
Conflicting Classifications
CA350450601 rs_1316885634

3 SubmittersRCV001010923RCV001860652RCV005236526

NM_000465.4(BARD1):c.158+1G>C SNV
Germline
Chr2:214809411 Likely pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA350464687 rs_1553628351

2 SubmittersRCV001012252RCV005621062

NM_000465.4(BARD1):c.2267G>A (p.Trp756Ter) SNV
Germline
Chr2:214728743 Pathogenic/Likely pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA350449959 rs_1358155595

4 SubmittersRCV001070842RCV001179860

NM_000465.4(BARD1):c.2224T>G (p.Leu742Val) SNV
Germline
Chr2:214728786 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA350450112 rs_876659765

2 SubmittersRCV001035010RCV005772067

NM_000465.4(BARD1):c.2218G>T (p.Glu740Ter) SNV
Germline
Chr2:214728792 Likely pathogenic Familial cancer of breast Criteria Provided
Single Submitter
CA350450150 rs_1692204026

1 SubmittersRCV001051112

NM_000465.4(BARD1):c.2020G>T (p.Gly674Ter) SNV
Germline
Chr2:214728990 Pathogenic/Likely pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA350450791 rs_1328046615

6 SubmittersRCV001056443RCV002416413RCV004809010

NM_000465.4(BARD1):c.1149G>A (p.Met383Ile) SNV
Germline
Chr2:214780725 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA350453963 rs_1559423780

2 SubmittersRCV001051228RCV004950174

NM_000465.4(BARD1):c.1003A>T (p.Arg335Ter) SNV
Germline
Chr2:214780871 Pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA350454418 rs_1694972567

2 SubmittersRCV001067489RCV004601353

NM_000465.4(BARD1):c.971A>G (p.His324Arg) SNV
Germline
Chr2:214780903 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA350454641 rs_1445844416

2 SubmittersRCV001041142RCV003353118

NM_000465.4(BARD1):c.876G>C (p.Lys292Asn) SNV
Germline
Chr2:214780998 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA350455173 rs_1449269582

2 SubmittersRCV004609614RCV001069913

NM_000465.4(BARD1):c.673G>T (p.Glu225Ter) SNV
Germline
Chr2:214781201 Pathogenic Familial cancer of breast
Malignant tumor of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA350456479 rs_1064793049

3 SubmittersRCV001052253RCV001535654

NM_000465.4(BARD1):c.522T>G (p.Ser174Arg) SNV
Germline
Chr2:214781352 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA350457470 rs_1060504190

2 SubmittersRCV001049037RCV002348389

NM_000465.4(BARD1):c.493A>G (p.Thr165Ala) SNV
Germline
Chr2:214781381 Conflicting classifications of pathogenicity Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA350457530 rs_876658147

3 SubmittersRCV001047846RCV002284458RCV004601341

NM_000465.4(BARD1):c.490C>T (p.Gln164Ter) SNV
Germline
Chr2:214781384 Pathogenic/Likely pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA350457536 rs_750350372

4 SubmittersRCV001060643RCV005520406

NM_000465.4(BARD1):c.244G>T (p.Gly82Ter) SNV
Germline
Chr2:214792417 Pathogenic Familial cancer of breast Criteria Provided
Multiple Submitters
No Conflicts
CA350461241 rs_1559437226

2 SubmittersRCV001066886

NM_000465.4(BARD1):c.20C>G (p.Pro7Arg) SNV
Germline
Chr2:214809550 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA350465436 rs_1696475875

3 SubmittersRCV001037388RCV001184674

NM_000465.4(BARD1):c.1904-10T>G SNV
Germline
Chr2:214730518 Conflicting classifications of pathogenicity Familial cancer of breast
Malignant tumor of breast
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2090119 rs_768259863

3 SubmittersRCV001045099RCV001356086RCV003238282

NM_000465.4(BARD1):c.1569-2A>G SNV
Germline
Chr2:214752557 Likely pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA350455079 rs_1693509336

3 SubmittersRCV001048460RCV002400273

NM_000465.4(BARD1):c.216-6T>A SNV
Germline
Chr2:214792451 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA916082288 rs_1695570324

2 SubmittersRCV001059733RCV001525519

NM_000465.4(BARD1):c.158+6G>T SNV
Germline
Chr2:214809406 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA916082287 rs_1696451585

4 SubmittersRCV001052567RCV001805999

NM_000465.4(BARD1):c.1315-1G>A SNV
Germline
Chr2:214769313 Pathogenic Condition: not provided Criteria Provided
Single Submitter
CA350450593 rs_1694367021

1 SubmittersRCV001091193

NM_000465.4(BARD1):c.903G>A (p.Glu301=) SNV
Germline
Chr2:214780971 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA431391694 rs_1694982551

3 SubmittersRCV001143337RCV006372144

NM_000465.4(BARD1):c.123C>A (p.Leu41=) SNV
Germline
Chr2:214809447 Conflicting classifications of pathogenicity Familial cancer of breast Criteria Provided
Conflicting Classifications
CA2090513 rs_764410072

3 SubmittersRCV001139003

NM_000465.4(BARD1):c.1678-3C>G SNV
Germline
Chr2:214745857 Pathogenic/Likely pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA1139657675 rs_1693089932

3 SubmittersRCV001873646RCV002402523RCV005236655

NM_000465.4(BARD1):c.1461G>T (p.Val487=) SNV
Germline
Chr2:214767589 Conflicting classifications of pathogenicity not specified
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA431129563 rs_1694272372

5 SubmittersRCV001175019RCV001476588RCV003363136RCV003478702

NM_000465.4(BARD1):c.1172C>A (p.Ser391Ter) SNV
Germline
Chr2:214780702 Pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA350453870 rs_878853995

4 SubmittersRCV001187014RCV001862946

NM_000465.4(BARD1):c.1109G>T (p.Arg370Leu) SNV
Germline
Chr2:214780765 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA350454039 rs_730881416

3 SubmittersRCV001186784RCV002560892

NM_000465.4(BARD1):c.1040T>C (p.Phe347Ser) SNV
Germline
Chr2:214780834 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA350454210 rs_1559424172

3 SubmittersRCV001185149RCV001298695

NM_000465.4(BARD1):c.1025G>A (p.Ser342Asn) SNV
Germline
Chr2:214780849 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA2090346 rs_760950550

5 SubmittersRCV001188171RCV002560921RCV006258423RCV006269318

NM_000465.4(BARD1):c.919T>C (p.Tyr307His) SNV
Germline
Chr2:214780955 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Criteria Provided
Conflicting Classifications
CA350455072 rs_1694981227

4 SubmittersRCV001176669RCV001875819RCV004777981

NM_000465.4(BARD1):c.860A>T (p.Glu287Val) SNV
Germline
Chr2:214781014 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA350455206 rs_1197692311

3 SubmittersRCV001181265RCV001344918

NM_000465.4(BARD1):c.664G>T (p.Ala222Ser) SNV
Germline
Chr2:214781210 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome Criteria Provided
Conflicting Classifications
CA350456517 rs_1574820102

2 SubmittersRCV001177250

NM_000465.4(BARD1):c.503C>T (p.Ala168Val) SNV
Germline
Chr2:214781371 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome Criteria Provided
Conflicting Classifications
CA350457511 rs_982408430

2 SubmittersRCV001188579

NM_000465.4(BARD1):c.503C>G (p.Ala168Gly) SNV
Germline
Chr2:214781371 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome Criteria Provided
Conflicting Classifications
CA64789105 rs_982408430

2 SubmittersRCV001177311

NM_000465.4(BARD1):c.503C>A (p.Ala168Glu) SNV
Germline
Chr2:214781371 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA350457512 rs_982408430

3 SubmittersRCV001190087RCV001220467

NM_000465.4(BARD1):c.190G>T (p.Gly64Ter) SNV
Germline
Chr2:214797086 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter
CA350462229 rs_1695792091

1 SubmittersRCV001191705

NM_000465.4(BARD1):c.1396-8T>G SNV
Germline
Chr2:214767662 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA913188275 rs_1694279608

2 SubmittersRCV001176402RCV001224035

NM_000465.4(BARD1):c.1470C>G (p.Thr490=) SNV
Germline
Chr2:214767580 Conflicting classifications of pathogenicity not specified
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA431129525 rs_758895846

2 SubmittersRCV001192858RCV004789461

NM_000465.4(BARD1):c.2036T>A (p.Leu679Ter) SNV
Germline
Chr2:214728974 Pathogenic/Likely pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA350450757 rs_1692227690

3 SubmittersRCV001216428RCV006655877

NM_000465.4(BARD1):c.1904G>A (p.Trp635Ter) SNV
Germline
Chr2:214730508 Pathogenic/Likely pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA350451351 rs_1692308262

4 SubmittersRCV001215714RCV002411797RCV003493824

NM_000465.4(BARD1):c.2279C>A (p.Ser760Ter) SNV
Germline
Chr2:214728731 Likely pathogenic Familial cancer of breast Criteria Provided
Single Submitter
CA350449924 rs_730881425

1 SubmittersRCV001202611

NM_000465.4(BARD1):c.1068T>A (p.Asn356Lys) SNV
Germline
Chr2:214780806 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
BARD1-related cancer predisposition
Criteria Provided
Conflicting Classifications
CA350454121 rs_1423687196

4 SubmittersRCV001205197RCV002411752RCV005359936

NM_000465.4(BARD1):c.855A>T (p.Gln285His) SNV
Germline
Chr2:214781019 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA350455218 rs_1694987168

2 SubmittersRCV001210221RCV005298728

NM_000465.4(BARD1):c.223G>A (p.Val75Ile) SNV
Germline
Chr2:214792438 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA350461325 rs_1559437285

3 SubmittersRCV001206238RCV002429881RCV006258438

NM_000465.4(BARD1):c.1811-1G>C SNV
Germline
Chr2:214745160 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA350452403 rs_879253952

2 SubmittersRCV001222167RCV002411819

NM_000465.4(BARD1):c.2093G>T (p.Gly698Val) SNV
Germline
Chr2:214728917 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA350450632 rs_1553612188

2 SubmittersRCV001236451RCV002418812

NM_000465.4(BARD1):c.1072C>A (p.Pro358Thr) SNV
Germline
Chr2:214780802 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA2090342 rs_769594971

2 SubmittersRCV001234234RCV004033231

NM_000465.4(BARD1):c.1149G>C (p.Met383Ile) SNV
Germline
Chr2:214780725 Conflicting classifications of pathogenicity Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA350453962 rs_1559423780

3 SubmittersRCV001241275RCV004727031RCV005520470

NM_000465.4(BARD1):c.1148T>G (p.Met383Arg) SNV
Germline
Chr2:214780726 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA2090335 rs_763596413

2 SubmittersRCV001244221RCV004601420

NM_000465.4(BARD1):c.1678-2A>G SNV
Germline
Chr2:214745856 Pathogenic/Likely pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA350453361 rs_1693089850

3 SubmittersRCV001229381RCV002402717

NM_000465.4(BARD1):c.895A>G (p.Thr299Ala) SNV
Germline
Chr2:214780979 Conflicting classifications of pathogenicity Familial cancer of breast
Malignant tumor of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA350455128 rs_1694983227

4 SubmittersRCV001253750RCV001354417RCV004609715

NM_000465.4(BARD1):c.1811-2A>G SNV
Germline
Chr2:214745161 Pathogenic/Likely pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA350452409 rs_1693044156

3 SubmittersRCV001253486RCV002259099

NM_000465.4(BARD1):c.212G>A (p.Cys71Tyr) SNV
Germline
Chr2:214797064 Pathogenic/Likely pathogenic Familial cancer of breast Criteria Provided
Multiple Submitters
No Conflicts
CA350462134 rs_1064793959

3 SubmittersRCV001257155

NM_000465.4(BARD1):c.1394T>A (p.Leu465Ter) SNV
Germline
Chr2:214769233 Pathogenic Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA350450053 rs_1370053894

4 SubmittersRCV001268558RCV001880167RCV005306373

NM_000465.4(BARD1):c.1395+4G>A SNV
Germline
Chr2:214769228 Conflicting classifications of pathogenicity Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA764583808 rs_1025329798

4 SubmittersRCV001284524RCV001871659RCV003584879

NM_000465.4(BARD1):c.1222A>G (p.Met408Val) SNV
Germline
Chr2:214780652 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA350453670 rs_1694946023

2 SubmittersRCV001299180RCV004036129

NM_000465.4(BARD1):c.952A>G (p.Asn318Asp) SNV
Germline
Chr2:214780922 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA2090359 rs_565582076

3 SubmittersRCV001301695RCV002375364

NM_000465.4(BARD1):c.505A>G (p.Ile169Val) SNV
Germline
Chr2:214781369 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Criteria Provided
Conflicting Classifications
CA2090418 rs_765494437

3 SubmittersRCV001326878RCV002341679RCV003492247

NM_000465.4(BARD1):c.62G>C (p.Arg21Pro) SNV
Germline
Chr2:214809508 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA350465208 rs_1696468454

2 SubmittersRCV001314585RCV002357129

NM_000465.4(BARD1):c.827C>G (p.Thr276Ser) SNV
Germline
Chr2:214781047 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA350455415 rs_1694989668

3 SubmittersRCV001339416RCV001806130

NM_000465.4(BARD1):c.577G>A (p.Glu193Lys) SNV
Germline
Chr2:214781297 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA350456852 rs_1695015277

2 SubmittersRCV001340142RCV003294334

NM_000465.4(BARD1):c.392G>A (p.Ser131Asn) SNV
Germline
Chr2:214781482 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA350458182 rs_1163172447

2 SubmittersRCV001337704RCV002377431

NM_000465.4(BARD1):c.355G>A (p.Glu119Lys) SNV
Germline
Chr2:214792306 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA350460753 rs_1559436782

2 SubmittersRCV001343080RCV002456488

NM_000465.4(BARD1):c.1904-12T>G SNV
Germline
Chr2:214730520 Conflicting classifications of pathogenicity Malignant tumor of breast
Familial cancer of breast
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2090120 rs_774178253

3 SubmittersRCV001357566RCV001762614RCV003238357

NM_000465.4(BARD1):c.2101C>T (p.Gln701Ter) SNV
Germline
Chr2:214728909 Likely pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
BARD1-related cancer predisposition
Criteria Provided
Multiple Submitters
No Conflicts
CA350450619 rs_587782348

3 SubmittersRCV001377053RCV002420850RCV005601772

NM_000465.4(BARD1):c.216-2A>G SNV
Germline
Chr2:214792447 Likely pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA350461346 rs_2106135562

3 SubmittersRCV001377233RCV003584915

NM_000465.4(BARD1):c.215+1G>A SNV
Germline
Chr2:214797060 Likely pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA350462115 rs_2106145519

2 SubmittersRCV001379969RCV003169942

NM_000465.4(BARD1):c.1741C>T (p.Gln581Ter) SNV
Germline
Chr2:214745791 Pathogenic Familial cancer of breast Criteria Provided
Single Submitter
CA350453017 rs_2106021020

1 SubmittersRCV001382116

NM_000465.4(BARD1):c.1048C>T (p.Gln350Ter) SNV
Germline
Chr2:214780826 Pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA350454164 rs_2106109048

3 SubmittersRCV001390445RCV002404908

NM_000465.4(BARD1):c.273G>A (p.Trp91Ter) SNV
Germline
Chr2:214792388 Pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA350461115 rs_2106135008

4 SubmittersRCV001382119RCV004951657

NM_000465.4(BARD1):c.1568+10T>G SNV
Germline
Chr2:214767472 Conflicting classifications of pathogenicity Familial cancer of breast
not specified
Condition: not provided
Criteria Provided
Conflicting Classifications
CA431128786 rs_1375582645

4 SubmittersRCV001412269RCV003230673RCV004998880

NM_000465.4(BARD1):c.150C>T (p.Cys50=) SNV
Germline
Chr2:214809420 Conflicting classifications of pathogenicity Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA350464756 rs_2106170807

4 SubmittersRCV001394500RCV003322892RCV006727267

NM_000465.4(BARD1):c.1569-1G>C SNV
Germline
Chr2:214752556 Pathogenic/Likely pathogenic Familial cancer of breast
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA350455073 rs_1574756672

2 SubmittersRCV001730131RCV003238378

NM_000465.4(BARD1):c.1027A>G (p.Thr343Ala) SNV
Germline
Chr2:214780847 Conflicting classifications of pathogenicity Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA350454283 rs_2106109159

3 SubmittersRCV001776492RCV001868806RCV002386555

NM_000465.4(BARD1):c.518C>T (p.Ala173Val) SNV
Germline
Chr2:214781356 Conflicting classifications of pathogenicity Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA350457477 rs_1316339721

4 SubmittersRCV001777100RCV001885141RCV003584989

NM_000465.4(BARD1):c.364+1G>A SNV
Germline
Chr2:214792296 Likely pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA350460711 rs_2106134408

4 SubmittersRCV001804278RCV003336439

NM_000465.4(BARD1):c.571G>A (p.Val191Ile) SNV
Germline
Chr2:214781303 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA64788990 rs_200781791

2 SubmittersRCV001946400RCV002344084

NM_000465.4(BARD1):c.1162A>G (p.Ile388Val) SNV
Germline
Chr2:214780712 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA350453913 rs_1553622215

2 SubmittersRCV001899262RCV002359322

NM_000465.4(BARD1):c.2002-2A>G SNV
Germline
Chr2:214729010 Conflicting classifications of pathogenicity Familial cancer of breast
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA350450834 rs_876658260

6 SubmittersRCV002028506RCV003434380RCV005095512RCV005764550

NM_000465.4(BARD1):c.979A>T (p.Arg327Ter) SNV
Germline
Chr2:214780895 Pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA350454573 rs_1559424358

3 SubmittersRCV001994594RCV006666813

NM_000465.4(BARD1):c.364+1G>T SNV
Germline
Chr2:214792296 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA350460714 rs_2106134408

2 SubmittersRCV001964080RCV006717459

NM_000465.4(BARD1):c.2246G>A (p.Arg749Lys) SNV
Germline
Chr2:214728764 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA350450003 rs_1692200373

3 SubmittersRCV001996310RCV002425393

NM_000465.4(BARD1):c.1199G>A (p.Ser400Asn) SNV
Germline
Chr2:214780675 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA350453767 rs_1694948749

2 SubmittersRCV001899946RCV003355579

NM_000465.4(BARD1):c.16C>T (p.Gln6Ter) SNV
Germline
Chr2:214809554 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA350465459 rs_876658234

3 SubmittersRCV001938338RCV002397913

NM_000465.4(BARD1):c.2166C>A (p.Tyr722Ter) SNV
Germline
Chr2:214728844 Likely pathogenic Familial cancer of breast Criteria Provided
Single Submitter
CA350450418 rs_2105987094

1 SubmittersRCV002025381

NM_000465.4(BARD1):c.159-2A>C SNV
Germline
Chr2:214797119 Pathogenic/Likely pathogenic Familial cancer of breast
Gastric cancer
Criteria Provided
Multiple Submitters
No Conflicts
CA350462338 rs_1424761304

3 SubmittersRCV002007896RCV003170297

NM_000465.4(BARD1):c.1450A>T (p.Lys484Ter) SNV
Germline
Chr2:214767600 Pathogenic Familial cancer of breast Criteria Provided
Single Submitter
CA350448518 rs_1694273552

1 SubmittersRCV001962020

NM_000465.4(BARD1):c.974A>G (p.His325Arg) SNV
Germline
Chr2:214780900 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA2090355 rs_768621478

2 SubmittersRCV001920120RCV002370470

NM_000465.4(BARD1):c.1569-2A>C SNV
Germline
Chr2:214752557 Likely pathogenic Familial cancer of breast Criteria Provided
Single Submitter
CA350455081 rs_1693509336

1 SubmittersRCV001998229

NM_000465.4(BARD1):c.2003T>A (p.Leu668Ter) SNV
Germline
Chr2:214729007 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA350450829 rs_2105988065

2 SubmittersRCV001977040RCV002423201

NM_000465.4(BARD1):c.2208T>A (p.Tyr736Ter) SNV
Germline
Chr2:214728802 Pathogenic/Likely pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA350450209 rs_2105986813

3 SubmittersRCV002046249RCV003161291

NM_000465.4(BARD1):c.1568+1G>A SNV
Germline
Chr2:214767481 Likely pathogenic Familial cancer of breast
Gastric cancer
Criteria Provided
Multiple Submitters
No Conflicts
CA350448062 rs_2106076135

3 SubmittersRCV002037429RCV003164006

NM_000465.4(BARD1):c.1538T>G (p.Leu513Ter) SNV
Germline
Chr2:214767512 Conflicting classifications of pathogenicity Familial cancer of breast Criteria Provided
Conflicting Classifications
CA350448188 rs_2106076340

3 SubmittersRCV001967128

NM_000465.4(BARD1):c.1396-1G>A SNV
Germline
Chr2:214767655 Likely pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA350448971 rs_2106077292

4 SubmittersRCV001966470RCV002388954

NM_000465.4(BARD1):c.316C>T (p.Gln106Ter) SNV
Germline
Chr2:214792345 Pathogenic Familial cancer of breast
BARD1-related cancer predisposition
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA350460922 rs_2106134639

4 SubmittersRCV001896769RCV005370020RCV006727433

NM_000465.4(BARD1):c.1030A>G (p.Ser344Gly) SNV
Germline
Chr2:214780844 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA350454268 rs_1278959534

2 SubmittersRCV001901443RCV004042602

NM_000465.4(BARD1):c.1930G>A (p.Val644Ile) SNV
Germline
Chr2:214730482 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA350451254 rs_2105990789

2 SubmittersRCV002000802RCV002407241

NM_000465.4(BARD1):c.1505C>T (p.Ala502Val) SNV
Germline
Chr2:214767545 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA350448335 rs_2106076564

2 SubmittersRCV002035178RCV006362603

NM_000465.4(BARD1):c.872C>G (p.Thr291Ser) SNV
Germline
Chr2:214781002 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA350455181 rs_2106110019

3 SubmittersRCV002047228RCV003355567

NM_000465.4(BARD1):c.898C>A (p.Pro300Thr) SNV
Germline
Chr2:214780976 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA350455125 rs_1064793050

2 SubmittersRCV001962603RCV006550725

NM_000465.4(BARD1):c.242C>G (p.Thr81Ser) SNV
Germline
Chr2:214792419 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA350461248 rs_1553624824

2 SubmittersRCV001998117RCV002442958

NM_000465.4(BARD1):c.1678-1G>T SNV
Germline
Chr2:214745855 Pathogenic/Likely pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA2090186 rs_767208318

4 SubmittersRCV001981212RCV004947007

NM_000465.4(BARD1):c.2233T>C (p.Tyr745His) SNV
Germline
Chr2:214728777 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA350450074 rs_771109295

2 SubmittersRCV001983943RCV005764547

NM_000465.4(BARD1):c.153G>A (p.Ser51=) SNV
Germline
Chr2:214809417 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA2090509 rs_761103724

5 SubmittersRCV002168847RCV002256939

NM_000465.4(BARD1):c.1903+16G>C SNV
Germline
Chr2:214745051 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA2573135096 rs_1693032325

2 SubmittersRCV002191549RCV004017908

NM_000465.4(BARD1):c.216-10T>C SNV
Germline
Chr2:214792455 Conflicting classifications of pathogenicity Familial cancer of breast Criteria Provided
Conflicting Classifications
CA2573135134 rs_2106135644

2 SubmittersRCV002216974

NM_000465.4(BARD1):c.1237G>A (p.Ala413Thr) SNV
Germline
Chr2:214780637 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA350453610 rs_2106107923

3 SubmittersRCV002226109RCV005520695RCV005095780

NM_000465.4(BARD1):c.216-3A>T SNV
Germline
Chr2:214792448 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
not specified
Criteria Provided
Conflicting Classifications
CA1042189366 rs_1329481396

2 SubmittersRCV002254852RCV003320877

NM_000465.4(BARD1):c.133G>T (p.Glu45Ter) SNV
Germline
Chr2:214809437 Pathogenic/Likely pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA350464874 rs_1553628365

6 SubmittersRCV002289388RCV002382507RCV005370192

NM_000465.4(BARD1):c.216-1G>C SNV
Germline
Chr2:214792446 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA350461344 rs_876658905

5 SubmittersRCV002290253RCV003308102RCV005865563

NM_000465.4(BARD1):c.1900G>T (p.Glu634Ter) SNV
Germline
Chr2:214745070 Pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA350452051 rs_761090896

4 SubmittersRCV002409638RCV003156035

NM_000465.4(BARD1):c.352A>C (p.Asn118His) SNV
Germline
Chr2:214792309 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA2090450 rs_749473441

2 SubmittersRCV002337568RCV003099544

NM_000465.4(BARD1):c.394T>G (p.Leu132Val) SNV
Germline
Chr2:214781480 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA350458147 rs_2469514208

2 SubmittersRCV002357615RCV003607457

NM_000465.4(BARD1):c.485C>A (p.Ser162Ter) SNV
Germline
Chr2:214781389 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter
CA350457545 rs_755693106

1 SubmittersRCV002340327

NM_000465.4(BARD1):c.1018A>G (p.Ile340Val) SNV
Germline
Chr2:214780856 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA350454329 rs_878853994

2 SubmittersRCV002359824RCV003607470

NM_000465.4(BARD1):c.816T>A (p.Phe272Leu) SNV
Germline
Chr2:214781058 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA350455493 rs_2469507897

2 SubmittersRCV002421483RCV003500750

NM_000465.4(BARD1):c.158+6G>A SNV
Germline
Chr2:214809406 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA2580065596 rs_1696451585

2 SubmittersRCV002405789RCV005097603

NM_000465.4(BARD1):c.1658C>G (p.Ser553Ter) SNV
Germline
Chr2:214752466 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Hereditary breast ovarian cancer syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA350454613 rs_2469377733

4 SubmittersRCV002395071RCV003100775RCV005239424

NM_000465.4(BARD1):c.1677+2T>A SNV
Germline
Chr2:214752445 Likely pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA350454489 rs_2469377325

2 SubmittersRCV002405950RCV003336711

NM_000465.4(BARD1):c.1568+1G>T SNV
Germline
Chr2:214767481 Likely pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA350448059 rs_2106076135

3 SubmittersRCV002405563RCV003336706

NM_000465.4(BARD1):c.1314G>A (p.Lys438=) SNV
Germline
Chr2:214780560 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA431390808 rs_1559423185

3 SubmittersRCV002385533RCV003340488

NM_000465.4(BARD1):c.105C>A (p.Ala35=) SNV
Germline
Chr2:214809465 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA350465015 rs_1031199399

2 SubmittersRCV002401766RCV005356119

NM_000465.4(BARD1):c.1853T>A (p.Leu618Ter) SNV
Germline
Chr2:214745117 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter
CA350452206 rs_1553614952

1 SubmittersRCV002413064

NM_000465.4(BARD1):c.1864C>T (p.Leu622Phe) SNV
Germline
Chr2:214745106 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Criteria Provided
Conflicting Classifications
CA350452151 rs_1453151719

4 SubmittersRCV002414972RCV003100895RCV003491107

NM_000465.4(BARD1):c.2074A>G (p.Ile692Val) SNV
Germline
Chr2:214728936 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA350450669 rs_1574703604

2 SubmittersRCV002422186RCV003098598

NM_000465.4(BARD1):c.2166C>G (p.Tyr722Ter) SNV
Germline
Chr2:214728844 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA350450416 rs_2105987094

3 SubmittersRCV002432649RCV003098684

NM_000465.4(BARD1):c.2116A>T (p.Lys706Ter) SNV
Germline
Chr2:214728894 Likely pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter
CA350450585 rs_149262370

1 SubmittersRCV002417554

NM_000465.4(BARD1):c.1086T>A (p.Cys362Ter) SNV
Germline
Chr2:214780788 Pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA350454085 rs_2469503962

2 SubmittersRCV002425868RCV003336727

NM_000465.4(BARD1):c.2001+2T>C SNV
Germline
Chr2:214730409 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2090108 rs_567493750

2 SubmittersRCV002417178RCV003477000

NM_000465.4(BARD1):c.2311G>C (p.Glu771Gln) SNV
Germline
Chr2:214728699 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA64792571 rs_868744803

2 SubmittersRCV002446455RCV003607542

NM_000465.4(BARD1):c.278A>G (p.Gln93Arg) SNV
Germline
Chr2:214792383 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Ovarian cancer
Criteria Provided
Conflicting Classifications
CA350461094 rs_2106134966

2 SubmittersRCV002441386RCV003154071

NM_000465.4(BARD1):c.1810+1G>T SNV
Germline
Chr2:214745721 Pathogenic Gastric cancer No Assertion Criteria Provided
CA350452474 rs_876659894

1 SubmittersRCV003164555

NM_000465.4(BARD1):c.1903+1G>C SNV
Germline
Chr2:214745066 Likely pathogenic Familial cancer of breast
Gastric cancer
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA350452041 rs_876660237

3 SubmittersRCV003336761RCV003164718RCV006717885

NM_000465.4(BARD1):c.158+2T>G SNV
Germline
Chr2:214809410 Likely pathogenic Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA350464679 rs_2469637256

2 SubmittersRCV002465983RCV005055460

NM_000465.4(BARD1):c.216-1G>T SNV
Germline
Chr2:214792446 Pathogenic/Likely pathogenic Familial cancer of breast Criteria Provided
Multiple Submitters
No Conflicts
CA350461343 rs_876658905

3 SubmittersRCV002467465

NM_000465.4(BARD1):c.1321A>G (p.Ile441Val) SNV
Germline
Chr2:214769306 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2090286 rs_756180801

3 SubmittersRCV003115347RCV004614402RCV006259424

NM_000465.4(BARD1):c.1567G>A (p.Val523Ile) SNV
Germline
Chr2:214767483 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA350448078 rs_2106076147

2 SubmittersRCV003112143RCV004949033

NM_000465.4(BARD1):c.212G>C (p.Cys71Ser) SNV
Germline
Chr2:214797064 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA350462133 rs_1064793959

2 SubmittersRCV003112144RCV003585367

NM_000465.4(BARD1):c.195A>G (p.Gly65=) SNV
Germline
Chr2:214797081 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA431144700 rs_1574847294

2 SubmittersRCV002721054RCV004067692

NM_000465.4(BARD1):c.928T>C (p.Ser310Pro) SNV
Germline
Chr2:214780946 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA350455007 rs_886041139

2 SubmittersRCV002741138RCV004948760

NM_000465.4(BARD1):c.362C>G (p.Ser121Ter) SNV
Germline
Chr2:214792299 Pathogenic/Likely pathogenic Familial cancer of breast Criteria Provided
Multiple Submitters
No Conflicts
CA350460724 rs_2469560081

3 SubmittersRCV002751565

NM_000465.4(BARD1):c.158+1G>A SNV
Germline
Chr2:214809411 Likely pathogenic Familial cancer of breast Criteria Provided
Single Submitter
CA350464685 rs_1553628351

1 SubmittersRCV002852321

NM_000465.4(BARD1):c.249T>A (p.Cys83Ter) SNV
Germline
Chr2:214792412 Pathogenic Familial cancer of breast Criteria Provided
Multiple Submitters
No Conflicts
CA350461222 rs_1574839902

2 SubmittersRCV002881006

NM_000465.4(BARD1):c.2286G>A (p.Trp762Ter) SNV
Germline
Chr2:214728724 Pathogenic/Likely pathogenic Familial cancer of breast Criteria Provided
Multiple Submitters
No Conflicts
CA350449897 rs_1262069856

2 SubmittersRCV002882017

NM_000465.4(BARD1):c.2244G>C (p.Glu748Asp) SNV
Germline
Chr2:214728766 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA350450009 rs_1692200499

2 SubmittersRCV002993790RCV006546211

NM_000465.4(BARD1):c.341T>A (p.Leu114Ter) SNV
Germline
Chr2:214792320 Pathogenic Familial cancer of breast Criteria Provided
Single Submitter
CA350460819 rs_2469560396

1 SubmittersRCV002991749

NM_000465.4(BARD1):c.1904-5G>C SNV
Germline
Chr2:214730513 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA2580065667 rs_376639978

2 SubmittersRCV003029150RCV006660311

NM_000465.4(BARD1):c.234C>A (p.Cys78Ter) SNV
Germline
Chr2:214792427 Pathogenic Familial cancer of breast Criteria Provided
Single Submitter
CA350461282 rs_2106135360

1 SubmittersRCV003038126

NM_000465.4(BARD1):c.1568+5G>A SNV
Germline
Chr2:214767477 Conflicting classifications of pathogenicity Familial cancer of breast Criteria Provided
Conflicting Classifications
CA2580065592 rs_2106076108

2 SubmittersRCV003059656

NM_000465.4(BARD1):c.1036G>A (p.Asp346Asn) SNV
Germline
Chr2:214780838 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA350454239 rs_1694968440

2 SubmittersRCV003066213RCV006377888

NM_000465.4(BARD1):c.1736C>T (p.Ser579Leu) SNV
Germline
Chr2:214745796 Conflicting classifications of pathogenicity Ovarian cancer
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA350453063 rs_2469342920

2 SubmittersRCV003154767RCV004246186

NM_000465.4(BARD1):c.2086A>G (p.Thr696Ala) SNV
Germline
Chr2:214728924 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA350450648 rs_2469270640

2 SubmittersRCV003176965RCV003779499

NM_000465.4(BARD1):c.792C>G (p.Gly264=) SNV
Germline
Chr2:214781082 Conflicting classifications of pathogenicity not specified
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA431390543 rs_1276619198

2 SubmittersRCV003230913RCV004786906

NM_000465.4(BARD1):c.2188C>T (p.Gln730Ter) SNV
Germline
Chr2:214728822 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA350450312 rs_1559372004

2 SubmittersRCV003301715RCV003336839

NM_000465.4(BARD1):c.1677+1G>A SNV
Germline
Chr2:214752446 Likely pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA350454493 rs_1060501310

2 SubmittersRCV003301716RCV003336840

NM_000465.4(BARD1):c.961A>T (p.Lys321Ter) SNV
Germline
Chr2:214780913 Pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA350454706 rs_2469506085

2 SubmittersRCV003301726RCV003336841

NM_000465.4(BARD1):c.1928A>G (p.Lys643Arg) SNV
Germline
Chr2:214730484 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA350451261 rs_2469277596

2 SubmittersRCV003301731RCV005102757

NM_000465.4(BARD1):c.1343T>A (p.Leu448Ter) SNV
Unknown
Chr2:214769284 Pathogenic Familial cancer of breast Criteria Provided
Single Submitter
CA350450429 rs_1694363292

1 SubmittersRCV003316937

NM_000465.4(BARD1):c.1677+2T>C SNV
Unknown
Chr2:214752445 Likely pathogenic Familial cancer of breast Criteria Provided
Single Submitter
CA350454484 rs_2469377325

1 SubmittersRCV003336881

NM_000465.4(BARD1):c.1736C>A (p.Ser579Ter) SNV
Unknown
Chr2:214745796 Pathogenic Familial cancer of breast Criteria Provided
Single Submitter
CA350453068 rs_2469342920

1 SubmittersRCV003336891

NM_000465.4(BARD1):c.536C>G (p.Ser179Ter) SNV
Germline
Chr2:214781338 Pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA350457437 rs_2106111914

3 SubmittersRCV003336903RCV005774597

NM_000465.4(BARD1):c.601A>T (p.Arg201Ter) SNV
Unknown
Chr2:214781273 Pathogenic Familial cancer of breast Criteria Provided
Single Submitter
CA350456756 rs_786203051

1 SubmittersRCV003336907

NM_000465.4(BARD1):c.802G>T (p.Glu268Ter) SNV
Unknown
Chr2:214781072 Pathogenic Familial cancer of breast Criteria Provided
Single Submitter
CA350455603 rs_2106110358

1 SubmittersRCV003336914

NM_000465.4(BARD1):c.1904-1G>T SNV
Germline
Chr2:214730509 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA350451356 rs_2469277929

2 SubmittersRCV003336915RCV003340677

NM_000465.4(BARD1):c.1396-1G>T SNV
Germline
Chr2:214767655 Likely pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA350448963 rs_2106077292

3 SubmittersRCV003336931RCV005774598

NM_000465.4(BARD1):c.2040G>A (p.Trp680Ter) SNV
Unknown
Chr2:214728970 Pathogenic Familial cancer of breast Criteria Provided
Single Submitter
CA350450745 rs_2469271103

1 SubmittersRCV003336951

NM_000465.4(BARD1):c.1531A>T (p.Lys511Ter) SNV
Unknown
Chr2:214767519 Pathogenic Familial cancer of breast Criteria Provided
Single Submitter
CA350448218 rs_2469442863

1 SubmittersRCV003336961

NM_000465.4(BARD1):c.1658C>A (p.Ser553Ter) SNV
Unknown
Chr2:214752466 Pathogenic Familial cancer of breast Criteria Provided
Single Submitter
CA350454615 rs_2469377733

1 SubmittersRCV003336963

NM_000465.4(BARD1):c.697G>T (p.Glu233Ter) SNV
Unknown
Chr2:214781177 Pathogenic Familial cancer of breast Criteria Provided
Single Submitter
CA350456362 rs_2469509820

1 SubmittersRCV003336985

NM_000465.4(BARD1):c.1396-1G>C SNV
Germline
Chr2:214767655 Likely pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA350448966 rs_2106077292

4 SubmittersRCV003336995RCV006368155

NM_000465.4(BARD1):c.1396-2A>C SNV
Germline
Chr2:214767656 Likely pathogenic Familial cancer of breast Criteria Provided
Multiple Submitters
No Conflicts
CA350448984 rs_2469444923

2 SubmittersRCV003337006

NM_000465.4(BARD1):c.364+2T>G SNV
Unknown
Chr2:214792295 Likely pathogenic Familial cancer of breast Criteria Provided
Single Submitter
CA350460705 rs_2469560027

1 SubmittersRCV003337120

NM_000465.4(BARD1):c.1678-2A>T SNV
Unknown
Chr2:214745856 Likely pathogenic Familial cancer of breast Criteria Provided
Multiple Submitters
No Conflicts
CA350453358 rs_1693089850

2 SubmittersRCV003337206

NM_000465.4(BARD1):c.286A>T (p.Lys96Ter) SNV
Unknown
Chr2:214792375 Pathogenic Familial cancer of breast Criteria Provided
Single Submitter
CA350461055 rs_2469561106

1 SubmittersRCV003334520

NM_000465.4(BARD1):c.468T>G (p.Tyr156Ter) SNV
Unknown
Chr2:214781406 Pathogenic Familial cancer of breast Criteria Provided
Single Submitter
CA350457607 rs_1436038663

1 SubmittersRCV003334521

NM_000465.4(BARD1):c.2002-1G>T SNV
Germline
Chr2:214729009 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary breast ovarian cancer syndrome
Criteria Provided
Conflicting Classifications
CA350450832 rs_762601855

2 SubmittersRCV003335556RCV006697512

NM_000465.4(BARD1):c.682G>T (p.Glu228Ter) SNV
Unknown
Chr2:214781192 Pathogenic Familial cancer of breast Criteria Provided
Single Submitter
CA350456435 rs_2106111008

1 SubmittersRCV003335567

NM_000465.4(BARD1):c.1386G>A (p.Trp462Ter) SNV
Germline
Chr2:214769241 Pathogenic Familial cancer of breast Criteria Provided
Multiple Submitters
No Conflicts
CA350450116 rs_2469454035

2 SubmittersRCV003335649

NM_000465.4(BARD1):c.101G>A (p.Trp34Ter) SNV
Germline
Chr2:214809469 Pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA350465031 rs_876659387

2 SubmittersRCV003335654RCV004949079

NM_000465.4(BARD1):c.1476T>G (p.Tyr492Ter) SNV
Germline
Chr2:214767574 Pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA350448454 rs_758190979

2 SubmittersRCV003335693RCV003358165

NM_000465.4(BARD1):c.589A>T (p.Lys197Ter) SNV
Unknown
Chr2:214781285 Pathogenic Familial cancer of breast Criteria Provided
Single Submitter
CA350456804 rs_2469511563

1 SubmittersRCV003335714

NM_000465.4(BARD1):c.1677+1G>T SNV
Germline
Chr2:214752446 Likely pathogenic Familial cancer of breast Criteria Provided
Multiple Submitters
No Conflicts
CA350454491 rs_1060501310

2 SubmittersRCV003335747

NM_000465.4(BARD1):c.150C>A (p.Cys50Ter) SNV
Unknown
Chr2:214809420 Pathogenic Familial cancer of breast Criteria Provided
Single Submitter
CA350464759 rs_2106170807

1 SubmittersRCV003335749

NM_000465.4(BARD1):c.529C>T (p.Gln177Ter) SNV
Germline
Chr2:214781345 Pathogenic Familial cancer of breast Criteria Provided
Multiple Submitters
No Conflicts
CA350457454 rs_2469512226

2 SubmittersRCV003335754

NM_000465.4(BARD1):c.1267A>T (p.Lys423Ter) SNV
Unknown
Chr2:214780607 Likely pathogenic Familial cancer of breast Criteria Provided
Single Submitter
CA350453485 rs_201146688

1 SubmittersRCV003464991

NM_000465.4(BARD1):c.2235T>A (p.Tyr745Ter) SNV
Unknown
Chr2:214728775 Likely pathogenic Familial cancer of breast Criteria Provided
Single Submitter
CA350450060 rs_747122703

1 SubmittersRCV003464997

NM_000465.4(BARD1):c.437G>A (p.Trp146Ter) SNV
Unknown
Chr2:214781437 Pathogenic Familial cancer of breast Criteria Provided
Single Submitter
CA350457787 rs_1695029110

1 SubmittersRCV003450439

NM_000465.4(BARD1):c.1673C>G (p.Ser558Ter) SNV
Unknown
Chr2:214752451 Pathogenic Familial cancer of breast Criteria Provided
Single Submitter
CA350454518 rs_1416123568

1 SubmittersRCV003450495

NM_000465.4(BARD1):c.1904-1G>A SNV
Germline
Chr2:214730509 Pathogenic/Likely pathogenic Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA350451355 rs_2469277929

3 SubmittersRCV003477431RCV003607601RCV004364823

NM_000465.4(BARD1):c.258T>A (p.Cys86Ter) SNV
Germline
Chr2:214792403 Pathogenic Condition: not provided
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA2090458 rs_749378322

2 SubmittersRCV003477432RCV005356449

NM_000465.4(BARD1):c.1904-2A>C SNV
Germline
Chr2:214730510 Pathogenic Condition: not provided Criteria Provided
Single Submitter
CA350451362 rs_864622239

1 SubmittersRCV003489330

NM_000465.4(BARD1):c.2203C>T (p.Gln735Ter) SNV
Germline
Chr2:214728807 Likely pathogenic Familial cancer of breast
Hereditary breast ovarian cancer syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA2090062 rs_767395666

2 SubmittersRCV003501693RCV005100354

NM_000465.4(BARD1):c.1600A>G (p.Thr534Ala) SNV
Germline
Chr2:214752524 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA350454930 rs_786202280

2 SubmittersRCV003500129RCV006709961

NM_000465.4(BARD1):c.215+2T>A SNV
Germline
Chr2:214797059 Likely pathogenic Familial cancer of breast Criteria Provided
Single Submitter
CA350462110 rs_1559441760

1 SubmittersRCV003500240

NM_000465.4(BARD1):c.1736C>G (p.Ser579Ter) SNV
Germline
Chr2:214745796 Pathogenic Familial cancer of breast Criteria Provided
Single Submitter
CA350453065 rs_2469342920

1 SubmittersRCV003500298

NM_000465.4(BARD1):c.1678-1G>A SNV
Germline
Chr2:214745855 Pathogenic/Likely pathogenic Familial cancer of breast Criteria Provided
Multiple Submitters
No Conflicts
CA350453356 rs_767208318

2 SubmittersRCV003500309

NM_000465.4(BARD1):c.1396-13A>G SNV
Germline
Chr2:214767667 Pathogenic Familial cancer of breast Criteria Provided
Single Submitter
CA2697550334 rs_2469445068

1 SubmittersRCV003501000

NM_000465.4(BARD1):c.1314+1G>T SNV
Germline
Chr2:214780559 Likely pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Multiple Submitters
No Conflicts
CA350453140 rs_753785671

2 SubmittersRCV003585972

NM_000465.4(BARD1):c.1396-10A>G SNV
Germline
Chr2:214767664 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA2739279059 rs_1553619373

2 SubmittersRCV003607622RCV004371506

NM_000465.4(BARD1):c.1678-9T>G SNV
Germline
Chr2:214745863 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA764568211 rs_1211334325

2 SubmittersRCV003607758RCV004950511

NM_000465.4(BARD1):c.1396-14A>G SNV
Germline
Chr2:214767668 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA2739279061 rs_2469445078

2 SubmittersRCV003607960RCV004950532

NM_000465.4(BARD1):c.541G>T (p.Glu181Ter) SNV
Germline
Chr2:214781333 Pathogenic Familial cancer of breast Criteria Provided
Single Submitter
CA350457425 rs_1695019560

1 SubmittersRCV003608181

NM_000465.4(BARD1):c.365-2A>T SNV
Germline
Chr2:214781511 Likely pathogenic Familial cancer of breast Criteria Provided
Single Submitter
CA350458457 rs_2469514913

1 SubmittersRCV003608308

NM_000465.4(BARD1):c.1121G>A (p.Gly374Asp) SNV
Germline
Chr2:214780753 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA350454016 rs_2106108582

2 SubmittersRCV003608610RCV004605021

NM_000465.4(BARD1):c.829G>T (p.Glu277Ter) SNV
Unknown
Chr2:214781045 Pathogenic Familial cancer of breast Criteria Provided
Single Submitter
CA350455413 rs_1426045227

1 SubmittersRCV004440013

NM_000465.4(BARD1):c.1759G>T (p.Glu587Ter) SNV
Unknown
Chr2:214745773 Pathogenic Familial cancer of breast Criteria Provided
Single Submitter
CA350452854 rs_780820468

1 SubmittersRCV004440236

NM_000465.4(BARD1):c.365-5G>A SNV
Germline
Chr2:214781514 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA2825001080 rs_1378664671

2 SubmittersRCV004518513RCV004787121

NM_000465.4(BARD1):c.950A>G (p.Glu317Gly) SNV
Germline
Chr2:214780924 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications

2 SubmittersRCV004605640RCV005102086

NM_000465.4(BARD1):c.159-14A>G SNV
Germline
Chr2:214797131 Likely pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004605650

NM_000465.4(BARD1):c.1476T>A (p.Tyr492Ter) SNV
Germline
Chr2:214767574 Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV004696708

NM_000465.4(BARD1):c.1648G>T (p.Glu550Ter) SNV
Unknown
Chr2:214752476 Pathogenic Familial cancer of breast Criteria Provided
Single Submitter

1 SubmittersRCV004787629

NM_000465.4(BARD1):c.1584G>C (p.Leu528=) SNV
Germline
Chr2:214752540 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications

2 SubmittersRCV004787676RCV006551228

NM_000465.4(BARD1):c.1396-5A>T SNV
Germline
Chr2:214767659 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications

2 SubmittersRCV004789015RCV005764967

NM_000465.4(BARD1):c.1851C>G (p.Thr617=) SNV
Germline
Chr2:214745119 Conflicting classifications of pathogenicity Familial cancer of breast
not specified
Criteria Provided
Conflicting Classifications

2 SubmittersRCV004789107RCV006274471

NM_000465.4(BARD1):c.1678-2A>C SNV
Germline
Chr2:214745856 Likely pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004951095

NM_000465.4(BARD1):c.1548T>G (p.Tyr516Ter) SNV
Germline
Chr2:214767502 Pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004951099RCV005110026

NM_000465.4(BARD1):c.1396-11A>G SNV
Germline
Chr2:214767665 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications

2 SubmittersRCV005072488RCV005303478

NM_000465.4(BARD1):c.1702G>T (p.Gly568Ter) SNV
Germline
Chr2:214745830 Pathogenic Familial cancer of breast Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005129838

NM_000465.4(BARD1):c.2217T>G (p.Tyr739Ter) SNV
Germline
Chr2:214728793 Likely pathogenic Familial cancer of breast Criteria Provided
Single Submitter

1 SubmittersRCV005141204

NM_000465.4(BARD1):c.188T>A (p.Leu63Ter) SNV
Germline
Chr2:214797088 Pathogenic Familial cancer of breast Criteria Provided
Single Submitter

1 SubmittersRCV005150239

NM_000465.4(BARD1):c.1936G>T (p.Glu646Ter) SNV
Germline
Chr2:214730476 Pathogenic Familial cancer of breast Criteria Provided
Single Submitter

1 SubmittersRCV005174323

NM_000465.4(BARD1):c.990T>A (p.Ser330Arg) SNV
Germline
Chr2:214780884 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications

2 SubmittersRCV005172243RCV005774753

NM_000465.4(BARD1):c.1444C>T (p.Gln482Ter) SNV
Germline
Chr2:214767606 Pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005197083RCV005774761

NM_000465.4(BARD1):c.1058C>T (p.Pro353Leu) SNV
Germline
Chr2:214780816 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications

2 SubmittersRCV005305155RCV006474825

NM_000465.4(BARD1):c.425C>G (p.Ser142Ter) SNV
Unknown
Chr2:214781449 Pathogenic Familial cancer of breast Criteria Provided
Single Submitter

1 SubmittersRCV005426499

NM_000465.4(BARD1):c.540T>G (p.Tyr180Ter) SNV
Unknown
Chr2:214781334 Pathogenic Familial cancer of breast Criteria Provided
Single Submitter

1 SubmittersRCV005421707

NM_000465.4(BARD1):c.2034T>G (p.Tyr678Ter) SNV
Germline
Chr2:214728976 Likely pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005526410

NM_000465.4(BARD1):c.824T>G (p.Leu275Ter) SNV
Germline
Chr2:214781050 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005524085

NM_000465.4(BARD1):c.1436T>G (p.Leu479Ter) SNV
Germline
Chr2:214767614 Pathogenic BARD1-related cancer predisposition Criteria Provided
Single Submitter

1 SubmittersRCV005600491

NM_000465.4(BARD1):c.1135A>T (p.Lys379Ter) SNV
Germline
Chr2:214780739 Pathogenic BARD1-related cancer predisposition Criteria Provided
Single Submitter

1 SubmittersRCV005600494

NM_000465.4(BARD1):c.1061C>A (p.Ser354Ter) SNV
Germline
Chr2:214780813 Likely pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005638778

NM_000465.4(BARD1):c.1678-1G>C SNV
Germline
Chr2:214745855 Likely pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005638853

NM_000465.4(BARD1):c.874A>T (p.Lys292Ter) SNV
Germline
Chr2:214781000 Likely pathogenic Familial cancer of breast Criteria Provided
Single Submitter

1 SubmittersRCV005645909

NM_000465.4(BARD1):c.1235C>G (p.Ser412Ter) SNV
Unknown
Chr2:214780639 Pathogenic Familial cancer of breast Criteria Provided
Single Submitter

1 SubmittersRCV005883013

NM_000465.4(BARD1):c.536C>A (p.Ser179Ter) SNV
Germline
Chr2:214781338 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter

1 SubmittersRCV006378995

NM_000465.4(BARD1):c.425C>A (p.Ser142Ter) SNV
Germline
Chr2:214781449 Pathogenic Familial cancer of breast Criteria Provided
Single Submitter

1 SubmittersRCV006512953

NM_000465.4(BARD1):c.859G>T (p.Glu287Ter) SNV
Germline
Chr2:214781015 Pathogenic Familial cancer of breast Criteria Provided
Single Submitter

1 SubmittersRCV006497492

NM_000465.4(BARD1):c.2077A>T (p.Lys693Ter) SNV
Germline
Chr2:214728933 Likely pathogenic Familial cancer of breast Criteria Provided
Single Submitter

1 SubmittersRCV006520712

NM_000465.4(BARD1):c.152C>A (p.Ser51Ter) SNV
Germline
Chr2:214809418 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter

1 SubmittersRCV006667977

NM_000465.4(BARD1):c.1333G>T (p.Glu445Ter) SNV
Germline
Chr2:214769294 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV006698825

NM_000465.4(BARD1):c.813T>A (p.Cys271Ter) SNV
Unknown
Chr2:214781061 Pathogenic Familial cancer of breast Criteria Provided
Single Submitter

1 SubmittersRCV006708102

NM_000465.4(BARD1):c.1105A>T (p.Lys369Ter) SNV
Germline
Chr2:214780769 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter

1 SubmittersRCV006720505

NM_000465.4(BARD1):c.769G>T (p.Glu257Ter) SNV
Germline
Chr2:214781105 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter

1 SubmittersRCV006720520

NM_000465.4(BARD1):c.1432G>T (p.Glu478Ter) SNV
Unknown
Chr2:214767618 Pathogenic Familial cancer of breast Criteria Provided
Single Submitter

1 SubmittersRCV006736070